Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795083 | SCV000934525 | pathogenic | Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect | 2019-06-17 | criteria provided, single submitter | clinical testing | This variant occurs in a non-coding region of the F9 gene. It does not change the encoded amino acid sequence of the F9 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with hemophilia B Leyden in families (PMID: 7677806, 2352926) and has been observed in several unrelated affected individuals (PMID: 28168417, 2352926, 8251390, 10595634, 7734378, 8217825). This variant is also known as -6G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 10559). This variant has been reported to affect F9 protein function (PMID: 23472758, 2352926). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV001815011 | SCV000031533 | pathogenic | Hemophilia B leyden | 1990-08-11 | no assertion criteria provided | literature only |