ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.576G>T (p.Pro192=) (rs45543741)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038761 SCV000062439 benign not specified 2007-12-13 criteria provided, single submitter clinical testing
Invitae RCV000205033 SCV000262096 benign Myofibrillar myopathy, ZASP-related 2017-10-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588670 SCV000698756 benign not provided 2016-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619480 SCV000736371 benign Cardiovascular phenotype 2016-01-11 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 RCV000770145 SCV000901571 benign Cardiomyopathy 2016-04-05 criteria provided, single submitter clinical testing

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