ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly)

dbSNP: rs61733968
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171804 SCV000050812 benign not specified 2013-06-24 criteria provided, single submitter research
Invitae RCV000234242 SCV000291910 benign Brugada syndrome 4 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000171804 SCV000317157 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000619181 SCV000735209 benign Cardiovascular phenotype 2015-11-10 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000234242 SCV000743847 benign Brugada syndrome 4 2016-05-12 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852604 SCV000995307 benign Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy; Supraventricular tachycardia; Ventricular tachycardia 2019-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000234242 SCV001158909 benign Brugada syndrome 4 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001706114 SCV001861467 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000171804 SCV001924803 benign not specified no assertion criteria provided clinical testing

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