ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) (rs111033613)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010826 SCV000031053 pathogenic Hereditary factor VIII deficiency disease 1992-05-01 no assertion criteria provided literature only
OMIM RCV000010827 SCV000031054 pathogenic FACTOR VIII (EAST HARTFORD) 1992-05-01 no assertion criteria provided literature only

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