Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000602364 | SCV000713829 | likely benign | not specified | 2018-01-19 | criteria provided, single submitter | clinical testing | p.Asp3705Asp in exon 80 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. BP4, BP7 |
Invitae | RCV002529362 | SCV001005246 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180589 | SCV001345548 | likely benign | Cardiomyopathy | 2018-10-08 | criteria provided, single submitter | clinical testing |