Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156896 | SCV000206617 | likely benign | not specified | 2014-11-20 | criteria provided, single submitter | clinical testing | p.Pro1307Pro in exon 31 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. It has been identified in 2/8726 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs200406978). |
Color Diagnostics, |
RCV001177861 | SCV001342143 | likely benign | Cardiomyopathy | 2020-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001432245 | SCV001635009 | likely benign | Catecholaminergic polymorphic ventricular tachycardia | 2020-06-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000474758 | SCV001849636 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162649 | SCV003911275 | likely benign | Cardiovascular phenotype | 2022-11-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |