ClinVar Miner

Submissions for variant NM_000133.4(F9):c.774T>C (p.Asn258=)

gnomAD frequency: 0.00002  dbSNP: rs752173947
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002203991 SCV002485904 likely benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2021-08-30 criteria provided, single submitter clinical testing

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