Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000711870 | SCV000528311 | likely benign | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711870 | SCV000842277 | likely benign | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085476 | SCV001006033 | likely benign | Intellectual disability, autosomal dominant 8 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418301 | SCV002725068 | likely benign | Inborn genetic diseases | 2018-01-31 | 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. |