Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994974 | SCV001148818 | uncertain significance | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | UBE3B: PM2 |
Invitae | RCV000994974 | SCV001720376 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549888 | SCV003678888 | likely benign | Inborn genetic diseases | 2022-05-09 | 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. |