ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)

dbSNP: rs137852470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011041 SCV000031268 pathogenic Hereditary factor VIII deficiency disease 1995-01-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701638 SCV001930811 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701638 SCV001954243 pathogenic not provided no assertion criteria provided clinical testing

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