Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000601447 | SCV000732859 | likely benign | not specified | 2017-06-30 | 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 | RCV000939556 | SCV001085402 | likely benign | not provided | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498991 | SCV002811935 | likely benign | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2021-09-20 | criteria provided, single submitter | clinical testing |