ClinVar Miner

Submissions for variant NM_000132.4(F8):c.121G>T (p.Gly41Cys)

gnomAD frequency: 0.00005  dbSNP: rs137852379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247317 SCV002519685 pathogenic Thrombophilia, X-linked, due to factor 8 defect 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000010869 SCV000031096 pathogenic Hereditary factor VIII deficiency disease 1995-01-01 no assertion criteria provided literature only

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