Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221603 | SCV000270803 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Ser4221Ser in Exon 90 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence. It has been identified in 0.1% (3/3310) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;). |
Invitae | RCV002517496 | SCV000637502 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001175631 | SCV001339303 | benign | Cardiomyopathy | 2019-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001541044 | SCV001758994 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444857 | SCV002682480 | likely benign | Cardiovascular phenotype | 2019-04-25 | 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. |
Prevention |
RCV003955262 | SCV004772788 | likely benign | RYR2-related condition | 2019-07-16 | criteria provided, single submitter | 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). |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001541044 | SCV001979347 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001541044 | SCV001980164 | uncertain significance | not provided | no assertion criteria provided | clinical testing |