Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170802 | SCV000223357 | uncertain significance | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Invitae | RCV001085234 | SCV000553012 | likely benign | Long QT syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316983 | SCV000850846 | likely benign | Cardiovascular phenotype | 2022-05-27 | 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. |