Mitochondrial Disease Variant Submission
Note:fields marked with * are required!!

I. Submit a New Variant: in format

*Steps: Input a variant, then: press "1. Annotate", "2. Auto Fill Form" button, then fill out the form below, and press "3. Save to MSeqDR". We recommend running HGVS format check for submission.

** This tool captures ClinVar style variant annotations according to ClinVar submission template (version 4.2, 2018.08.21). Mouse-over text boxes to view full ClinVar submission instructions.

II. Interpret a Saved Variant:    
1 Variant Local ID:
2** Variant Linking ID:
3 Gene Gene symbol:
4** Gene Reference sequence:
5** Variant definition HGVS:
6** Variant definition Chromosome:
7** Variant definition Start:
8** Variant definition Stop:
9** Variant definition Reference allele:
10** Variant definition Alternate allele:
11** Structural variant definition Variant type:
12 Structural variant definition Outer start:
13 Structural variant definition Inner start:
14 Structural variant definition Inner stop:
15 Structural variant definition Outer stop:
16** Structural variant definition Variant length:
17 Structural variant definition Copy number:
18 Structural variant definition Reference copy number:
19 Structural variant definition Breakpoint 1:
20 Structural variant definition Breakpoint 2:
21** Structural variant definition Comment on variant:
22 Structural variant definition Trace or probe data:
23 Structural variant definition Additional structural variant definition:
24 Structural variant definition Variation identifiers:
25 Structural variant definition Location:
26 Structural variant definition Alternate designations:
27 Structural variant definition Official allele name:
28 Structural variant definition URL:
29 Variant Additional_variant_information:
30** Assertion condition Condition ID type:
31** Assertion condition Condition ID value:
32** Assertion condition Preferred condition name:
33** Assertion condition Condition category:
34 Assertion condition Condition uncertainty:
35 Assertion condition Condition comment:
36 Assertion condition Additional_assertion condition:
37** Clinical significance Clinical significance:
38** Clinical significance Date last evaluated:
39 Clinical significance Assertion method:
40 Clinical significance Assertion method citation:
41 Clinical significance Mode of inheritance:
42 Clinical significance Clinical significance citations:
43 Clinical significance Citations or URLs for clinical significance without database identifiers:
44 Clinical significance Comment on clinical significance:
45** Clinical significance Explanation if clinical significance is other or drug response:
46 Drug response condition Drug_response_condition:
47 Clinical significance Functional consequence:
48 Clinical significance Comment on functional consequence:
49 Clinical significance Additional clinical significance information:
50** Details of test and individual Collection method:
51** Details of test and individual Allele origin:
52** Details of test and individual Affected status:
53** Details of test and individual Structural variant method_analysis type:
54 Details of test and individual Clinical features:
55 Details of test and individual Comment on clinical features:
56 Details of test and individual Date phenotype was evaluated:
57 Details of test and individual Tissue:
58 Details of test and individual Sex:
59 Details of test and individual Age range:
60 Details of test and individual Population Group Ethnicity:
61 Details of test and individual Geographic origin:
62 Details of test and individual Family history:
63 Details of test and individual Indication:
64 Details of test and individual Total number of individuals tested:
65 Details of test and individual Number of families tested:
66 Details of test and individual Additional details of individuals tested:
67 Details of testing results Number of individuals with variant:
68 Details of testing results Number of chromosomes with variant:
69 Details of testing results Number of families with variant:
70 Details of testing results Number of families with segregation observed:
71 Details of testing results Secondary finding:
72 Details of testing results Mosaicism:
73 Details of testing results Number of homozygotes:
74 Details of testing results Number of single heterozygotes:
75 Details of testing results Number of compound heterozygotes:
76 Details of testing results Number of hemizygotes:
77 Details of testing results Evidence citations:
78 Details of testing results Citations or URLs that cannot be represented in evidence citations column:
79 Details of testing results Comment on evidence:
80 Details of testing results Additional details of testing results:
81 Method Test name or type:
82 Method Platform type:
83 Method Platform name:
84 Method Method:
85 Method Method purpose:
86 Method Method citations:
87 Method Software name and version:
88 Method Software purpose:
89 Method Testing laboratory:
90 Method Date variant was reported to submitter:
91 Method Testing laboratory interpretation:
92 Method Additional method data:
93 General Comments and Accession Comment:
94 General Comments and Accession Private comment:
95** General Comments and Accession ClinVarAccession:
96 General Comments and Accession Novel or Update:
97 General Comments and Accession Replaces ClinVarAccessions:
98** General Comments and Accession Submitter of Variant: guest
99** General Comments and Accession Study ID: Add/Create
100 General Comments and Accession Original_Variant:
101 General Comments and Accession MSCV:
102 General Comments and Accession ClinVar AlleleID:
103 General Comments and Accession Permission:
104 General Comments and Accession Curation_status (change to "Completed" after filling all required information):
Help file. Submitter full information:   Same as study submitter   Different from study submitter 
Help file.   Name: Help file.   E-mail:
Help file.   Organization: Help file.   Organization ID:
Help file.   Institution: Help file.   Head of lab:
Help file.   Telephone: Help file.   URL