Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474846 | SCV000563168 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311800 | SCV000847197 | likely benign | Inborn genetic diseases | 2016-06-10 | 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. |
Gene |
RCV000474846 | SCV001771151 | likely benign | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003457699 | SCV004177988 | benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |