ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) (rs373721253)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized 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).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724268 SCV000229405 uncertain significance not provided 2015-01-12 criteria provided, single submitter clinical testing
Invitae RCV001088037 SCV000554560 benign Catecholaminergic polymorphic ventricular tachycardia 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617215 SCV000735766 likely benign Cardiovascular phenotype 2016-08-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768762 SCV000900132 likely benign Cardiomyopathy 2015-10-05 criteria provided, single submitter clinical testing
Color Health, Inc RCV000768762 SCV001356053 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724268 SCV001501969 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724268 SCV001741127 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724268 SCV001927792 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000724268 SCV001954090 likely benign not provided no assertion criteria provided clinical testing

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