ClinVar Miner

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

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Total submissions: 6
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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 2019-12-31 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 RCV000768762 SCV001356053 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing

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