ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.156A>T (p.Val52=)

gnomAD frequency: 0.39324  dbSNP: rs12097
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037405 SCV000061062 benign not specified 2006-10-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) 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, part of Exact Sciences 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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Laboratory Services, Illumina RCV000346704 SCV000481613 benign Danon disease 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, 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
Invitae RCV000346704 SCV001717498 benign Danon disease 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000346704 SCV001981295 benign Danon disease 2021-08-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675450 SCV000801132 benign not provided 2015-10-20 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037405 SCV001925850 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037405 SCV001967911 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000399625 SCV003800613 benign Hypertrophic cardiomyopathy 2022-10-10 no assertion criteria provided clinical testing

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