ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)

gnomAD frequency: 0.00825  dbSNP: rs45592139
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Total submissions: 18
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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 RCV000038754 SCV000051558 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000038754 SCV000062432 benign not specified 2009-01-19 criteria provided, single submitter clinical testing
Invitae RCV000229889 SCV000289622 benign Myofibrillar myopathy 4 2021-12-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038754 SCV000306364 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000396879 SCV000365552 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000229889 SCV000365553 likely benign Myofibrillar myopathy 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000338341 SCV000365554 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000396844 SCV000365555 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000038754 SCV000613998 benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621945 SCV000735116 benign Cardiovascular phenotype 2016-03-15 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001528687 SCV001158917 benign not provided 2020-02-27 criteria provided, single submitter clinical testing
GeneDx RCV001528687 SCV001840803 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25163546)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030119 SCV000052774 benign Cardiomyopathy 2013-02-18 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528687 SCV001740854 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001528687 SCV001799414 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038754 SCV001917846 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038754 SCV001954953 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038754 SCV001969403 benign not specified no assertion criteria provided clinical testing

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