Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000883160 | SCV001026444 | likely benign | Tuberous sclerosis 1 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256582 | SCV002531416 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-25 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256582 | SCV002753246 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-07 | 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. |