ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr)

dbSNP: rs2123993600
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272788 SCV002557002 likely pathogenic Hereditary factor VIII deficiency disease 2020-11-25 criteria provided, single submitter clinical testing PM1, PM2, PP3, PP4, PP5

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