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

New variant: in format
To create a new variant entry, press "Annotate", "Auto Fill" buttons, then fill out the form below. We recommend running HGVS format check for submission.
** This tool captures ClinVar style variant annotations according to ClinVar submission template (version 2016.12). Mouse-over text boxes to view full ClinVar submission instructions.

Saved Variants:    
Variant 1 Local ID:
Variant 2** Linking ID:
Gene 3 Gene symbol:
Gene 4** Reference sequence:
Variant definition 5** HGVS:
Variant definition 6** Chromosome:
Variant definition 7** Start:
Variant definition 8** Stop:
Variant definition 9** Reference allele:
Variant definition 10** Alternate allele:
Structural variant definition 11** Variant type:
Structural variant definition 12 Outer start:
Structural variant definition 13 Inner start:
Structural variant definition 14 Inner stop:
Structural variant definition 15 Outer stop:
Structural variant definition 16** Variant length:
Structural variant definition 17 Copy number:
Structural variant definition 18 Reference copy number:
Structural variant definition 19 Breakpoint 1:
Structural variant definition 20 Breakpoint 2:
Structural variant definition 21 Trace or probe data:
Structural variant definition 22 Additional structural variant definition:
Structural variant definition 23 Variation identifiers:
Structural variant definition 24 Location:
Structural variant definition 25 Alternate designations:
Structural variant definition 26 Official allele name:
Structural variant definition 27 URL:
Variant 28 Additional_variant_information:
Assertion condition 29** Condition ID type:
Assertion condition 30** Condition ID value:
Assertion condition 31** Preferred condition name:
Assertion condition 32** Condition category:
Assertion condition 33 Condition uncertainty:
Assertion condition 34 Condition comment:
Assertion condition 35 Additional_assertion condition:
Clinical significance 36** Clinical significance:
Clinical significance 37** Date last evaluated:
Clinical significance 38 Assertion method:
Clinical significance 39 Assertion method citation:
Clinical significance 40 Mode of inheritance:
Clinical significance 41 Clinical significance citations:
Clinical significance 42 Citations or URLs for clinical significance without database identifiers:
Clinical significance 43 Comment on clinical significance:
Clinical significance 44** Explanation if clinical significance is other or drug response:
Drug response condition 45 Optional. The condition for which the drug response is relevant. Separate multiple conditions by a semicolon.:
Clinical significance 46 Functional consequence:
Clinical significance 47 Comment on functional consequence:
Clinical significance 48 Additional clinical significance information:
Details of test and individual 49** Collection method:
Details of test and individual 50** Allele origin:
Details of test and individual 51** Affected status:
Details of test and individual 52** Structural variant method/analysis type:
Details of test and individual 53 Clinical features:
Details of test and individual 54 Comment on clinical features:
Details of test and individual 55 Tissue:
Details of test and individual 56 Sex:
Details of test and individual 57 Age range:
Details of test and individual 58 Population Group/Ethnicity:
Details of test and individual 59 Geographic origin:
Details of test and individual 60 Family history:
Details of test and individual 61 Indication:
Details of test and individual 62 Total number of individuals tested:
Details of test and individual 63 Number of families tested:
Details of test and individual 64 Additional details of individuals tested:
Details of testing results 65 Number of individuals with variant:
Details of testing results 66 Number of chromosomes with variant:
Details of testing results 67 Number of families with variant:
Details of testing results 68 Number of families with segregation observed:
Details of testing results 69 Secondary finding:
Details of testing results 70 Mosaicism:
Details of testing results 71 Number of homozygotes:
Details of testing results 72 Number of single heterozygotes:
Details of testing results 73 Number of compound heterozygotes:
Details of testing results 74 Number of hemizygotes:
Details of testing results 75 Evidence citations:
Details of testing results 76 Citations or URLs that cannot be represented in evidence citations column:
Details of testing results 77 Comment on evidence:
Details of testing results 78 Additional details of testing results:
Method 79 Test name or type:
Method 80 Platform type:
Method 81 Platform name:
Method 82 Method:
Method 83 Method purpose:
Method 84 Method citations:
Method 85 Software name and version:
Method 86 Software purpose:
Method 87 Testing laboratory:
Method 88 Date variant was reported to submitter:
Method 89 Additional method data:
General Comments and Accession 90 Comment:
General Comments and Accession 91 Private comment:
General Comments and Accession 92** ClinVarAccession:
General Comments and Accession 93 Novel or Update:
General Comments and Accession 94 Replaces ClinVarAccessions:
 
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
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