Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316128 | SCV000847706 | likely benign | Inborn genetic diseases | 2016-08-10 | 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 | RCV000882976 | SCV001026245 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000882976 | SCV001989495 | benign | not provided | 2021-08-16 | criteria provided, single submitter | clinical testing |