Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021607 | SCV001183245 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-16 | 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. |
Ce |
RCV000869137 | SCV001334516 | likely benign | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001519063 | SCV001727866 | benign | Tuberous sclerosis 2 | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001519063 | SCV002039404 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |