ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) (rs45592139)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621945 SCV000735116 benign Cardiovascular phenotype 2016-03-15 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
Athena Diagnostics Inc RCV000038754 SCV000613998 benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038754 SCV000051558 benign not specified 2013-06-24 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000396879 SCV000365552 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229889 SCV000365553 likely benign Myofibrillar myopathy, ZASP-related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338341 SCV000365554 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396844 SCV000365555 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030119 SCV000052774 benign Cardiomyopathy 2013-02-18 no assertion criteria provided clinical testing
Invitae RCV000229889 SCV000289622 benign Myofibrillar myopathy, ZASP-related 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038754 SCV000062432 benign not specified 2009-01-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000038754 SCV000306364 benign not specified criteria provided, single submitter clinical testing

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