ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2321G>C (p.Gly774Ala)

gnomAD frequency: 0.00001  dbSNP: rs547915978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222146 SCV002499621 uncertain significance Factor V deficiency criteria provided, single submitter clinical testing

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