Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000713744 | SCV000563184 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713744 | SCV000844373 | benign | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313240 | SCV000849345 | benign | Inborn genetic diseases | 2016-08-08 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV000713744 | SCV001916786 | benign | not provided | 2019-12-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003457708 | SCV004177472 | benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |