ClinVar Miner

Submissions for variant NM_003476.4(CSRP3):c.336G>A (p.Ala112=) (rs13451)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037782 SCV000603230 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246047 SCV000317753 benign Cardiovascular phenotype 2015-06-23 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
Cytogenetics Laboratory,Banaras Hindu University RCV000710025 SCV000840397 likely pathogenic Dilated cardiomyopathy 2014-09-23 no assertion criteria provided case-control
GeneDx RCV000037782 SCV000168050 benign not specified 2012-12-04 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.
Illumina Clinical Services Laboratory,Illumina RCV000314070 SCV000369721 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371114 SCV000369722 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037782 SCV000061444 benign not specified 2008-02-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037782 SCV000309591 benign not specified criteria provided, single submitter clinical testing

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