Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462249 | SCV000544547 | likely benign | Tuberous sclerosis 2 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569265 | SCV000664635 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-03 | 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. |
Genome- |
RCV000462249 | SCV002039746 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002056709 | SCV002497859 | uncertain significance | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TSC2: PM2:Supporting |
Gene |
RCV002056709 | SCV004023507 | uncertain significance | not provided | 2023-07-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |