Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036711 | SCV000060366 | benign | not specified | 2012-03-13 | criteria provided, single submitter | clinical testing | His621His in exon 19 of RYR2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and has been identified in 0.8% (53/6742) from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17686573). |
Eurofins Ntd Llc |
RCV000036711 | SCV000226883 | benign | not specified | 2014-12-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001093805 | SCV000285708 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000246162 | SCV000318798 | benign | Cardiovascular phenotype | 2015-06-01 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Illumina Laboratory Services, |
RCV000311993 | SCV000356233 | likely benign | Arrhythmogenic right ventricular dysplasia 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001093805 | SCV000356234 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
CHEO Genetics Diagnostic Laboratory, |
RCV000030416 | SCV000901198 | benign | Cardiomyopathy | 2016-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000030416 | SCV000910651 | benign | Cardiomyopathy | 2018-03-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001529652 | SCV001473109 | benign | not provided | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001529652 | SCV001748206 | benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | RYR2: BP4, BP7, BS1, BS2 |
Gene |
RCV001529652 | SCV001912127 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996138 | SCV004844619 | benign | Catecholaminergic polymorphic ventricular tachycardia | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030416 | SCV000053085 | benign | Cardiomyopathy | 2013-12-26 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV001529652 | SCV001743461 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000036711 | SCV001922765 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000036711 | SCV001953667 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000036711 | SCV001968413 | benign | not specified | no assertion criteria provided | clinical testing |