ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5600A>G (p.His1867Arg)

dbSNP: rs28933679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480027 SCV004225717 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing PP3, PM2, PS4_moderate
OMIM RCV000011001 SCV000031228 pathogenic Hereditary factor VIII deficiency disease 1991-10-01 no assertion criteria provided literature only

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