Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087452 | SCV001001765 | likely benign | Intellectual disability, autosomal dominant 8 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000084695 | SCV001801536 | likely benign | not provided | 2020-09-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426649 | SCV002728776 | likely benign | Inborn genetic diseases | 2018-01-10 | 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. |
Psychiatry Genetics Yale University | RCV000084695 | SCV000116831 | not provided | not provided | no assertion provided | not provided |