Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000210437 | SCV000266511 | uncertain significance | Parkinson disease | 2016-01-01 | criteria provided, single submitter | research | |
Invitae | RCV000892783 | SCV001036682 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000892783 | SCV002562955 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TNR: BP4, BS2 |
Ambry Genetics | RCV002515585 | SCV003625417 | likely benign | Inborn genetic diseases | 2021-12-28 | 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. |