Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674493 | SCV000799839 | uncertain significance | Classic homocystinuria | 2018-05-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002233104 | SCV000828268 | uncertain significance | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2018-06-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CBS-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the CBS mRNA. It is expected to extend the length of the CBS protein by 31 additional amino acid residues. |
Natera, |
RCV000674493 | SCV002083752 | uncertain significance | Classic homocystinuria | 2021-10-19 | no assertion criteria provided | clinical testing |