VARIANT SUBMISSION

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We encourage the submission of coagulation factor variant data from clinical genetics facilities.

Variant data is held in both an enhanced EAHAD online DB and mirrored to an LOVD-format DB. The basic data in each is identical, and submission of your data to either will, after curation, result in addition of that data to both online DBs.

You may submit variant data in one of three different ways. Contact the named gene variant curators (see below) if you would like advice as to the best method for you.

  • (a) you may enter your data into our formatted spreadsheet for the gene of interest (see below) and submit to the curator (preferred option)
  • (b) you may enter data in your own spreadsheet and submit to the curator
  • (c) you may consult the curator as to whether to submit data to the LOVD variant DB website using LOVD facilities
Gene Curator Link Variant Submission Spreadsheet LOVD Submission
F5
Geoffrey Kemball-Cookto be added (May 2021)contact curator
F8 Geoffrey Kemball-Cook F8 Variant Submission Spreadsheet contact curator
F9 Geoffrey Kemball-Cook F9 Variant Submission Spreadsheet contact curator
VWF Dan Hampshire VWF Variant Submission Spreadsheet contact curator
F7 Muriel Giansily-Blaizot F7 Variant Submission Spreadsheet contact curator