Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000659171 | SCV000780987 | uncertain significance | not provided | 2018-02-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000659171 | SCV001068535 | likely benign | not provided | 2018-03-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360682 | SCV002666028 | likely benign | Inborn genetic diseases | 2017-12-18 | 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. |