Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187990 | SCV000241593 | likely benign | not provided | 2019-07-19 | 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31031587) |
Invitae | RCV001082003 | SCV000649485 | likely benign | Benign neonatal seizures | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415809 | SCV002728990 | benign | Inborn genetic diseases | 2020-01-24 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |