Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540815 | SCV000644514 | likely benign | Tuberous sclerosis 2 | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672838 | SCV001887258 | benign | not provided | 2020-04-10 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31799751) |
Genome- |
RCV000540815 | SCV002039839 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002330897 | SCV002632774 | likely benign | Hereditary cancer-predisposing syndrome | 2022-10-31 | 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 |
RCV001672838 | SCV003917456 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | TSC2: PM2, BP4, BS3:Supporting |