Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000477016 | SCV000530656 | likely benign | not provided | 2019-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080464 | SCV000556619 | likely benign | Tuberous sclerosis 2 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000490979 | SCV000579615 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-09 | 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. |
Genome- |
RCV001080464 | SCV002040280 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |