ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.156A>T (p.Val52=) (rs12097)

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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,Partners HealthCare Personalized Medicine RCV000037405 SCV000061062 benign not specified 2006-10-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037405 SCV000111896 benign not specified 2016-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000037405 SCV000170069 benign not specified 2012-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000037405 SCV000308815 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000253949 SCV000317463 benign Cardiovascular phenotype 2014-11-24 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
Illumina Clinical Services Laboratory,Illumina RCV000346704 SCV000481613 likely benign Danon disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399625 SCV000481614 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715317 SCV000846145 benign History of neurodevelopmental disorder 2014-11-24 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675450 SCV000801132 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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