Submissions for variant NM_002294.3(LAMP2):c.927C>T (p.Ser309=)

gnomAD frequency: 0.02702  dbSNP: rs73219144

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037435	SCV000061092	benign	not specified	2011-06-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on its high frequency in the general population (3%; LMM unpublished data).
PreventionGenetics, part of Exact Sciences	RCV000037435	SCV000308816	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242368	SCV000317987	benign	Cardiovascular phenotype	2015-07-20	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
Eurofins Ntd Llc (ga)	RCV000037435	SCV000342340	benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374719	SCV000481605	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	RCV000280231	SCV000481606	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000374719	SCV000560062	benign	Danon disease	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000716802	SCV000847645	benign	History of neurodevelopmental disorder	2015-07-20	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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000374719	SCV001472973	benign	Danon disease	2023-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000675448	SCV001873371	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000374719	SCV000734732	likely benign	Danon disease		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675448	SCV000801130	benign	not provided	2015-10-20	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037435	SCV001917070	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037435	SCV001927464	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037435	SCV001956992	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037435	SCV001973880	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000280231	SCV003803624	likely benign	Hypertrophic cardiomyopathy	2022-09-29	no assertion criteria provided	clinical testing