MSeqDR’s ClinVar style variant submission system supports ClinVar template v4.2 (2018.08)

MSeqDR’s ClinVar style variant submission tool supports template v4.2 (2018.08)

ClinVar style variant submission and curation version 2

MSeqDR.org implemented this tool to support pre-ClinVar stage pathogenicity data capture and curation.

The completed variant data will be compatible with the ClinVar submission requirements, and potentially generate ready-to-submit Excel file or API direct submission to ClinVar.

It now captures data for about 100 fields from the ClinVar submission template (version 4.2,  2018.o8.21), more than the previous 35 fields.

Select the Submit Variants (batch submission) under the “Submission” menu to use it. URL: https://mseqdr.org/submitvariant.php

Submission

To submit new variant(s), add variant(s) in HGVS or VCF formats, select a study, then press “Submit” button. We recommend running HGVS format check if the result is not as expected.

After this preliminary submission which creates the entries with auto-populated genomic annotations, finish the full curation: Interpret_Variant, using “Curate” links to the variants in the “Variant Record Browser” table.

Dr. Lishuang SHEN

Lishuang Shen MSeqDR WebMaster, Sr. Bioinformatics Scientist, Center for Personalized Medicine, Children's Hospital of Los Angeles, Email: lishen@chla.usc.edu, shen_lishuang@yahoo.com, Suite 300, 2100 W 3rd St, Los Angeles, CA 90057

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