Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000244645 | SCV000320618 | likely benign | Cardiovascular phenotype | 2020-11-25 | 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. |
| Gene |
RCV000485512 | SCV000573538 | uncertain significance | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; At the protein level, in silico analysis supports that this missense variant does not alter protein structure/function; At the mRNA level, in silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
| Invitae | RCV001078623 | SCV001002322 | likely benign | Progressive familial heart block type IB | 2024-01-31 | criteria provided, single submitter | clinical testing |