ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1026G>A (p.Thr342=)

gnomAD frequency: 0.00001  dbSNP: rs954954812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445381 SCV001648412 likely benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832179 SCV002082230 likely benign Hereditary factor IX deficiency disease 2020-04-12 no assertion criteria provided clinical testing

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