Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316784 | SCV000850514 | likely benign | Inborn genetic diseases | 2017-03-09 | 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. |
Invitae | RCV000871092 | SCV001012693 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000871092 | SCV001820925 | likely benign | not provided | 2020-02-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000871092 | SCV004033282 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | CHD8: BP4, BS2 |