VARIANT SUBMISSION

Home / VARIANT SUBMISSION

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 two 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 (if available) 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
Gene Curator Link Variant Submission Spreadsheet
F5
Geoffrey Kemball-Cookcontact curator
F8 Geoffrey Kemball-Cook F8 Variant Submission Spreadsheet
F9 Geoffrey Kemball-Cook F9 Variant Submission Spreadsheet
VWF Dan Hampshire VWF Variant Submission Spreadsheet
F7 Muriel Giansily-Blaizot F7 Variant Submission Spreadsheet
F10Muriel Giansily-Blaizotcontact curator
F11John McVeycontact curator