ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.690-4626T>C (rs71473272)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036849 SCV000060504 benign not specified 2012-04-09 criteria provided, single submitter clinical testing Ser182Ser in exon 6 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and has been identified in 0.3% (22/6920) of European American chromosomes from a broad population by th e NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs714 73272). Ser182Ser in exon 6 of LDB3 (rs71473272; allele frequency = 0.3%, 22/69 20) **
PreventionGenetics,PreventionGenetics RCV000036849 SCV000306369 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303793 SCV000365576 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365510 SCV000365577 uncertain significance Cardiomyopathy, left ventricular noncompaction 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273098 SCV000365578 uncertain significance Myofibrillar myopathy, ZASP-related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307366 SCV000365579 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000273098 SCV000557543 benign Myofibrillar myopathy, ZASP-related 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618735 SCV000735180 benign Cardiovascular phenotype 2015-07-31 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285602 SCV001472062 benign none provided 2020-02-16 criteria provided, single submitter clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV001293331 SCV001481919 benign Dilated cardiomyopathy 1C 2015-01-30 no assertion criteria provided case-control
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530015 SCV001744503 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001530015 SCV001799902 likely benign not provided no assertion criteria provided clinical testing

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