ClinVar Miner

Submissions for variant NM_000133.4(F9):c.730T>C (p.Leu244=)

gnomAD frequency: 0.00004  dbSNP: rs765470577
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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 RCV000867622 SCV001008873 benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2024-03-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830896 SCV002083704 likely benign Hereditary factor IX deficiency disease 2020-05-15 no assertion criteria provided clinical testing

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