Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001504473 | SCV001709352 | likely benign | Tuberous sclerosis 2 | 2022-04-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002416051 | SCV002720903 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-01 | 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. |