Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251103 | SCV000307948 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001416159 | SCV001618333 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2020-08-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000886773 | SCV001827065 | likely benign | not provided | 2019-02-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450774 | SCV002615712 | likely benign | Cardiovascular phenotype | 2018-12-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV003486787 | SCV004240642 | likely benign | Cardiomyopathy | 2022-09-30 | criteria provided, single submitter | clinical testing |