ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.690-4A>G

gnomAD frequency: 0.00299  dbSNP: rs45529531
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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030120 SCV000052775 likely benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000154455 SCV000204124 benign not specified 2013-05-30 criteria provided, single submitter clinical testing 690-4A>G in intron 6 of LDB3: This variant is not expected to have clinical sign ificance because it is not located within the splice consensus sequence and has been identified in 0.7% (30/4406) of African American chromosomes from a broad p opulation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S; dbSNP rs45529531).
PreventionGenetics,PreventionGenetics RCV000154455 SCV000306370 benign not specified criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000154455 SCV000341435 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000405139 SCV000365592 uncertain significance Myofibrillar myopathy 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000288174 SCV000365593 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000347861 SCV000365594 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000393351 SCV000365595 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000405139 SCV000557557 benign Myofibrillar myopathy 4 2021-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000154455 SCV000614001 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619569 SCV000735020 benign Cardiovascular phenotype 2015-04-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030120 SCV000900655 benign Cardiomyopathy 2017-08-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001529636 SCV001471507 benign not provided 2021-11-09 criteria provided, single submitter clinical testing
GeneDx RCV001529636 SCV001939650 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529636 SCV001743428 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000154455 SCV001923332 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000154455 SCV001930598 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000154455 SCV001956547 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529636 SCV002035349 likely benign not provided no assertion criteria provided clinical testing

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