Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529507 | SCV000642709 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704673 | SCV000729385 | likely benign | not provided | 2020-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395403 | SCV002705321 | likely benign | Cardiovascular phenotype | 2021-03-16 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486862 | SCV004239833 | likely benign | Cardiomyopathy | 2022-07-06 | criteria provided, single submitter | clinical testing |