Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705069 | SCV000243577 | likely benign | not provided | 2020-10-27 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26563443) |
Invitae | RCV000542085 | SCV000644434 | benign | Tuberous sclerosis 2 | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020126 | SCV001181563 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-12 | 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- |
RCV000542085 | SCV002039740 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |