ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.927C>T (p.Ser309=) (rs73219144)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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clinical testing This variant is classified as benign based on its high frequency in the general population (3%; LMM unpublished data).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,PreventionGenetics 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037435 SCV000342340 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 Clinical Services Laboratory,Illumina RCV000280231 SCV000481606 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000374719 SCV000560062 benign Danon disease 2019-12-31 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000374719 SCV000734732 likely benign Danon disease no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675448 SCV000801130 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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