ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1218A>G (p.Ser406=)

gnomAD frequency: 0.00003  dbSNP: rs916632342
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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 RCV001505997 SCV001710912 likely benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2024-08-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456501 SCV004184946 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing F9: BP4, BP7

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