Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001170513 | SCV001333096 | uncertain significance | Cardiomyopathy | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001775948 | SCV002013937 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 560881; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 31068177, 27535533) |
Dr. |
RCV000679804 | SCV000804311 | likely pathogenic | Hyaline body myopathy | 2018-09-04 | no assertion criteria provided | clinical testing |