ClinVar Miner

Submissions for variant NM_000133.4(F9):c.114C>T (p.Asn38=)

gnomAD frequency: 0.00011  dbSNP: rs745353370
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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 RCV001518998 SCV001727793 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. RCV001825740 SCV002083691 likely benign Hereditary factor IX deficiency disease 2020-10-21 no assertion criteria provided clinical testing

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