Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244089 | SCV000307961 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001697720 | SCV000724794 | likely benign | not provided | 2020-06-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000649060 | SCV000770885 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347956 | SCV002647145 | likely benign | Cardiovascular phenotype | 2019-06-21 | 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, |
RCV003150144 | SCV003838427 | likely benign | Cardiomyopathy | 2021-11-01 | criteria provided, single submitter | clinical testing |