Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233060 | SCV000290132 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313945 | SCV000848040 | benign | Inborn genetic diseases | 2016-10-18 | 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 |
RCV000233060 | SCV001783892 | likely benign | not provided | 2018-10-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003457657 | SCV004177382 | likely benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |