ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6301C>G (p.His2101Asp)

dbSNP: rs1603432783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000991020 SCV001142121 likely pathogenic Hereditary factor VIII deficiency disease 2019-05-28 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000991020 SCV002556506 likely pathogenic Hereditary factor VIII deficiency disease 2020-12-14 criteria provided, single submitter clinical testing PM1, PM2, PP3, PP4, PP5

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