ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1041C>A (p.Ser347=) (rs45555240)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030114 SCV000052769 benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038715 SCV000062393 benign not specified 2008-03-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038715 SCV000311689 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000456667 SCV000557541 benign Myofibrillar myopathy, ZASP-related 2016-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620203 SCV000735298 benign Cardiovascular phenotype 2015-06-26 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene

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