Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000926729 | SCV001072292 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003353083 | SCV004054620 | likely benign | Inborn genetic diseases | 2023-07-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001826928 | SCV002076557 | likely benign | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2021-03-20 | no assertion criteria provided | clinical testing |