Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001021 | SCV001158129 | likely benign | Long QT syndrome 12 | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363532 | SCV002664884 | likely benign | Cardiovascular phenotype | 2021-12-11 | 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 | RCV002549149 | SCV002970635 | likely benign | Long QT syndrome | 2022-02-07 | criteria provided, single submitter | clinical testing |