Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571483 | SCV000675469 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-23 | 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. |
Invitae | RCV000644306 | SCV000765999 | likely benign | Tuberous sclerosis 2 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712587 | SCV001940396 | benign | not provided | 2015-03-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000644306 | SCV002039872 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |