Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000613908 | SCV000730393 | likely benign | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000642997 | SCV000764684 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-18 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768975 | SCV000900348 | likely benign | Cardiomyopathy | 2016-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002457957 | SCV002611687 | likely benign | Cardiovascular phenotype | 2021-09-09 | 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. |