ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1337G>A (p.Arg446Gln)

gnomAD frequency: 0.00010  dbSNP: rs781889613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249966 SCV002519676 uncertain significance Thrombophilia, X-linked, due to factor 8 defect 2024-01-29 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002272575 SCV002556457 uncertain significance Hereditary factor VIII deficiency disease 2019-11-05 criteria provided, single submitter clinical testing

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