Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000641193 | SCV000519141 | likely benign | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770264 | SCV000901696 | likely benign | Cardiomyopathy | 2017-07-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000770264 | SCV001353518 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001402284 | SCV001604129 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374648 | SCV002684785 | likely benign | Cardiovascular phenotype | 2021-03-10 | 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. |
Ce |
RCV000641193 | SCV004156983 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | PRKAG2: BP4, BP7 |