Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547380 | SCV000651087 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508595 | SCV001714858 | uncertain significance | not provided | 2021-10-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358571 | SCV002651726 | benign | Cardiovascular phenotype | 2022-08-04 | criteria provided, single submitter | clinical testing | This alteration is classified as 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, |
RCV003486880 | SCV004240660 | benign | Cardiomyopathy | 2023-06-23 | criteria provided, single submitter | clinical testing |