ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5878C>T (p.Arg1960Ter)

dbSNP: rs137852363
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010831 SCV000031058 pathogenic Hereditary factor VIII deficiency disease 1986-11-27 no assertion criteria provided literature only
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV000010831 SCV001424883 pathogenic Hereditary factor VIII deficiency disease 2019-06-01 no assertion criteria provided clinical testing

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