Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553036 | SCV000646433 | benign | Intellectual disability, autosomal dominant 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316562 | SCV000849700 | likely benign | Inborn genetic diseases | 2016-03-21 | 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. |
Gene |
RCV001535178 | SCV001752169 | benign | not provided | 2018-10-12 | criteria provided, single submitter | clinical testing |