Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539771 | SCV000642788 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420450 | SCV002729845 | likely benign | Cardiovascular phenotype | 2022-08-01 | 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 |
RCV003437262 | SCV004148231 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
CHEO Genetics Diagnostic Laboratory, |
RCV003486863 | SCV004239853 | likely benign | Cardiomyopathy | 2023-06-06 | criteria provided, single submitter | clinical testing |