Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000415690 | SCV001596800 | likely benign | Tuberous sclerosis 2 | 2020-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002323581 | SCV002607236 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-10 | 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. |
Knight Diagnostic Laboratories, |
RCV000415690 | SCV000493816 | uncertain significance | Tuberous sclerosis 2 | 2016-03-30 | no assertion criteria provided | clinical testing |