Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000887628 | SCV000715430 | likely benign | not provided | 2021-10-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001517336 | SCV001725816 | benign | Spinocerebellar ataxia type 19/22 | 2025-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325144 | SCV002609238 | likely benign | Cardiovascular phenotype | 2019-08-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Fulgent Genetics, |
RCV002491246 | SCV002796634 | likely benign | Spinocerebellar ataxia type 19/22; Brugada syndrome 9 | 2021-08-23 | criteria provided, single submitter | clinical testing |