ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) (rs34423165)

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Total submissions: 13
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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 RCV000038768 SCV000051559 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038768 SCV000062446 benign not specified 2012-02-07 criteria provided, single submitter clinical testing Lys251Arg in exon 7 of LDB3: This variant is classified as benign based on its h igh frequency in the general population (dbSNP rs34423165; NHLBI Exome Sequencin g Project, http://evs.gs.washington.edu/EVS).
GeneDx RCV000038768 SCV000235981 benign not specified 2012-08-09 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.
Invitae RCV000205724 SCV000262097 benign Myofibrillar myopathy, ZASP-related 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354520 SCV000365600 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259558 SCV000365601 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319367 SCV000365602 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205724 SCV000365603 likely benign Myofibrillar myopathy, ZASP-related 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513959 SCV000610451 likely benign not provided 2017-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618811 SCV000735303 benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030121 SCV000900656 likely benign Cardiomyopathy 2016-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000038768 SCV001159398 benign not specified 2019-06-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030121 SCV000052776 benign Cardiomyopathy 2013-02-18 no assertion criteria provided clinical testing

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