Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000770113 | SCV000901539 | likely benign | Cardiomyopathy | 2016-09-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001499653 | SCV001704420 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298516 | SCV003999512 | likely benign | Cardiovascular phenotype | 2023-04-29 | 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. |