Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001718898 | SCV000720601 | benign | not provided | 2020-01-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000642271 | SCV000763935 | benign | Mowat-Wilson syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000642271 | SCV002045698 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377268 | SCV002692001 | likely benign | Inborn genetic diseases | 2017-08-25 | 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. |