Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000940368 | SCV001086230 | likely benign | Tuberous sclerosis 2 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569812 | SCV001793966 | uncertain significance | not provided | 2022-04-07 | criteria provided, single submitter | clinical testing | In-silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000940368 | SCV002041049 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002259061 | SCV002533316 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-07 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002259061 | SCV002743745 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-28 | 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. |