Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231620 | SCV000285455 | benign | Tuberous sclerosis 2 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001753689 | SCV000527720 | benign | not provided | 2021-09-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000231620 | SCV002039945 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347869 | SCV002644786 | benign | Hereditary cancer-predisposing syndrome | 2022-01-18 | 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. |