ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) (rs28935203)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506107 SCV000603515 pathogenic not specified 2016-10-26 criteria provided, single submitter clinical testing
OMIM RCV000010828 SCV000031055 pathogenic Hereditary factor VIII deficiency disease 1990-01-01 no assertion criteria provided literature only

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