Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001187316 | SCV001354085 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001237446 | SCV001410206 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001187316 | SCV002043285 | likely benign | Cardiomyopathy | 2019-06-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002280163 | SCV002568693 | uncertain significance | not provided | 2022-02-24 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports a deleterious effect on splicing |
Mayo Clinic Laboratories, |
RCV002280163 | SCV004227183 | uncertain significance | not provided | 2022-02-15 | criteria provided, single submitter | clinical testing |