Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769197 | SCV000900573 | likely benign | Cardiomyopathy | 2017-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001497476 | SCV001702205 | likely benign | Dilated cardiomyopathy 1JJ | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325463 | SCV002607588 | likely benign | Cardiovascular phenotype | 2020-01-06 | 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. |