Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001170148 | SCV001332695 | uncertain significance | Cardiomyopathy | 2019-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001664723 | SCV001874188 | uncertain significance | not provided | 2021-06-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 915496; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 27535533) |