ClinVar Miner

Submissions for variant NM_000133.4(F9):c.48C>A (p.Thr16=)

gnomAD frequency: 0.00002  dbSNP: rs768833956
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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 RCV001511063 SCV001718244 benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2024-02-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832680 SCV002083689 likely benign Hereditary factor IX deficiency disease 2021-09-29 no assertion criteria provided clinical testing

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