Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704526 | SCV000533827 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771985 | SCV000904940 | likely benign | Cardiomyopathy | 2018-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000966656 | SCV001113999 | benign | Lethal congenital glycogen storage disease of heart | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003343826 | SCV004051973 | likely benign | Cardiovascular phenotype | 2023-09-11 | 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. |