Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474480 | SCV000556490 | benign | Tuberous sclerosis 2 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564551 | SCV000675644 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-15 | 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. |
Gene |
RCV001584177 | SCV001812495 | likely benign | not provided | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000474480 | SCV002039228 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000564551 | SCV002531100 | benign | Hereditary cancer-predisposing syndrome | 2021-05-20 | criteria provided, single submitter | curation | |
Ce |
RCV001584177 | SCV004700013 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |