ClinVar Miner

Submissions for variant NM_000133.4(F9):c.966C>T (p.Asp322=)

gnomAD frequency: 0.00003  dbSNP: rs373107855
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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 RCV001520994 SCV001730235 benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832716 SCV002082227 likely benign Hereditary factor IX deficiency disease 2021-06-09 no assertion criteria provided clinical testing

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