ClinVar style variant submission and curation system version 2 is released

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 more than 90 fields from the ClinVar submission template (version 2016.12), more than the previous 35 fields.

Select the Submit Variants under “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.

admin

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 Phone: 323-644-8507 Suite 300 2100 W 3rd St Los Angeles, CA 90057

Leave a Reply