ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1336C>T (p.Arg446Ter)

dbSNP: rs137852372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247316 SCV002519677 pathogenic Thrombophilia, X-linked, due to factor 8 defect 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000010858 SCV000031085 pathogenic Hereditary factor VIII deficiency disease 1990-10-01 no assertion criteria provided literature only

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