Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552595 | SCV000644538 | likely benign | Tuberous sclerosis 2 | 2017-06-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022518 | SCV001184268 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-07 | 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- |
RCV000552595 | SCV002039474 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |