ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.690-4A>G (rs45529531)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030120 SCV000052775 likely benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Partners HealthCare 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154455 SCV000341435 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405139 SCV000365592 uncertain significance Myofibrillar myopathy, ZASP-related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288174 SCV000365593 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347861 SCV000365594 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393351 SCV000365595 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000857881 SCV000557557 benign not provided 2019-03-04 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 Lines of evidence used in support of classification: 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

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