Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000841523 | SCV000983493 | likely benign | not provided | 2018-04-20 | 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 | RCV000841523 | SCV001673882 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274203 | SCV001458051 | uncertain significance | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2020-03-11 | no assertion criteria provided | clinical testing |