ClinVar Miner

Submissions for variant NM_000133.4(F9):c.523C>T (p.Pro175Ser)

gnomAD frequency: 0.00005  dbSNP: rs762986355
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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 RCV000868038 SCV001009324 benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2024-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825736 SCV002083701 likely benign Hereditary factor IX deficiency disease 2020-12-29 no assertion criteria provided clinical testing

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