Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842575 | SCV000984599 | likely benign | not provided | 2018-04-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002234888 | SCV001059010 | likely benign | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001087275 | SCV002083777 | likely benign | Classic homocystinuria | 2020-02-28 | no assertion criteria provided | clinical testing |