Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697948 | SCV000722745 | likely benign | not provided | 2020-02-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395587 | SCV002698322 | likely benign | Cardiovascular phenotype | 2022-08-16 | 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. |
Invitae | RCV003532188 | SCV004283628 | likely benign | Long QT syndrome | 2023-10-20 | criteria provided, single submitter | clinical testing |