ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.689+3861C>T

gnomAD frequency: 0.00004  dbSNP: rs754704023
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219436 SCV000270350 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing c.322-14C>T in intron 3 of LDB3: This variant is not expected to have clinical s ignificance because a C>T change at this position does not diverge from the spli ce consensus sequence and is therefore unlikely to impact splicing. It has been identified in 16/66740 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs754704023).
Illumina Laboratory Services, Illumina RCV000298515 SCV000365556 uncertain significance Myofibrillar myopathy 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360274 SCV000365557 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267983 SCV000365558 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301609 SCV000365559 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000298515 SCV002363142 likely benign Myofibrillar myopathy 4 2023-12-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529058 SCV001741864 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000219436 SCV001922527 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529058 SCV001965336 likely benign not provided no assertion criteria provided clinical testing

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