ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1468A>G (p.Arg490Gly)

dbSNP: rs1603435026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000991026 SCV001142128 likely pathogenic Hereditary factor VIII deficiency disease 2019-05-28 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000991026 SCV002556534 uncertain significance Hereditary factor VIII deficiency disease 2020-02-07 criteria provided, single submitter clinical testing PM2, PP3, PP5

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