Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127614 | SCV000171193 | benign | not specified | 2013-05-17 | 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. |
Color Diagnostics, |
RCV001181120 | SCV001346206 | likely benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000127614 | SCV001433355 | likely benign | not specified | 2019-11-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001485161 | SCV001689590 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354318 | SCV002650375 | likely benign | Cardiovascular phenotype | 2019-10-17 | 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. |