ClinVar Miner

Submissions for variant NM_000133.4(F9):c.278-27A>G

gnomAD frequency: 0.01152  dbSNP: rs3134809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523111 SCV001732769 benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476830 SCV002804242 likely benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked 2022-05-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714254 SCV005279612 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001832724 SCV002083695 benign Hereditary factor IX deficiency disease 2019-10-25 no assertion criteria provided clinical testing

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