ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu)

gnomAD frequency: 0.14908  dbSNP: rs58225473
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Total submissions: 6
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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 RCV000124111 SCV000050811 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000124111 SCV000167520 benign not specified 2011-07-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000124111 SCV000225950 benign not specified 2015-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000124111 SCV000317158 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000253056 SCV000317858 benign Cardiovascular phenotype 2015-04-06 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.
Invitae RCV000860347 SCV001000374 benign Brugada syndrome 4 2024-02-01 criteria provided, single submitter clinical testing

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