ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) (rs75206601)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036696 SCV000060351 benign not specified 2012-04-24 criteria provided, single submitter clinical testing Asp4807Asp in exon 100 of RYR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6.8% (8/118) of ch romosomes from a broad, though clinically and racially unspecified population (d bSNP rs75206601).
PreventionGenetics,PreventionGenetics RCV000036696 SCV000306039 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252186 SCV000318662 benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV000382483 SCV000356489 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269303 SCV000356490 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858164 SCV000554593 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768792 SCV000900164 benign Cardiomyopathy 2015-11-03 criteria provided, single submitter clinical testing
Color RCV000768792 SCV000910957 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing

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