Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000156262 | SCV000205978 | likely benign | not specified | 2013-12-12 | criteria provided, single submitter | clinical testing | Ala123Ala in exon03 of SCN5A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Ala123Ala in exon03 of SCN5A (allele frequenc y = n/a) |
| Gene |
RCV000156262 | SCV000525479 | likely benign | not specified | 2016-03-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV003764966 | SCV001638643 | likely benign | not provided | 2024-09-17 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002345516 | SCV002621562 | likely benign | Cardiovascular phenotype | 2021-12-06 | 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. |
| All of Us Research Program, |
RCV003998306 | SCV004821530 | likely benign | Cardiac arrhythmia | 2023-11-20 | criteria provided, single submitter | clinical testing |