Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151759 | SCV000200155 | likely benign | not specified | 2015-10-12 | criteria provided, single submitter | clinical testing | p.Asn1296Asn 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 0.1% (78/65372) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs373721253). |
Eurofins Ntd Llc |
RCV000724268 | SCV000229405 | uncertain significance | not provided | 2015-01-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002514691 | SCV000554560 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617215 | SCV000735766 | likely benign | Cardiovascular phenotype | 2016-08-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000768762 | SCV000900132 | likely benign | Cardiomyopathy | 2015-10-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000768762 | SCV001356053 | benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724268 | SCV001501969 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | RYR2: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000151759 | SCV002570670 | benign | not specified | 2022-07-18 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997457 | SCV004814943 | benign | Catecholaminergic polymorphic ventricular tachycardia | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000724268 | SCV001741127 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000724268 | SCV001927792 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000724268 | SCV001954090 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724268 | SCV001964871 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000151759 | SCV002034552 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004544282 | SCV004760793 | likely benign | RYR2-related disorder | 2019-02-22 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |