Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171680 | SCV000055286 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Color Diagnostics, |
RCV001179789 | SCV001344566 | likely benign | Cardiomyopathy | 2019-10-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000171680 | SCV002007816 | uncertain significance | not provided | 2022-01-31 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009); Reported in ClinVar (ClinVar Variant ID#191485; ClinVar) |
Invitae | RCV002515250 | SCV002123409 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-07-25 | criteria provided, single submitter | clinical testing |