Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313662 | SCV000848866 | likely benign | Inborn genetic diseases | 2017-01-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Invitae | RCV000912154 | SCV001057246 | likely benign | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000912154 | SCV001776822 | likely benign | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing |