ClinVar Miner

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

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Total submissions: 19
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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 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354520 SCV000365600 likely benign Cardiomyopathy, left ventricular noncompaction 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 This alteration is classified as benign based on a combination of the following: 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.
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 RCV001282923 SCV001159398 benign none provided 2020-08-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030121 SCV000052776 benign Cardiomyopathy 2013-02-18 no assertion criteria provided clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV001293338 SCV001481926 likely pathogenic Dilated cardiomyopathy 1C 2014-08-19 no assertion criteria provided case-control
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000513959 SCV001744452 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000513959 SCV001798405 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000038768 SCV001919505 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000038768 SCV001930938 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000038768 SCV001954764 benign not specified no assertion criteria provided clinical testing

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