Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003148803 | SCV000718523 | uncertain significance | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; 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 | RCV001435315 | SCV001638134 | likely benign | Primary dilated cardiomyopathy | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384326 | SCV002699982 | likely benign | Cardiovascular phenotype | 2018-04-05 | 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. |