Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538441 | SCV000654845 | benign | Arrhythmogenic right ventricular dysplasia 13 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001727759 | SCV002005485 | likely benign | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420518 | SCV002724630 | likely benign | Inborn genetic diseases | 2022-02-20 | 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. |
Clinical Genetics, |
RCV001700160 | SCV001919052 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727759 | SCV001972583 | likely benign | not provided | no assertion criteria provided | clinical testing |