ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1024A>G (p.Thr342Ala)

dbSNP: rs1603267362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002489512 SCV002788450 likely pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked 2021-11-03 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003927 SCV001161884 pathogenic Hereditary factor IX deficiency disease no assertion criteria provided research

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