ClinVar Miner

Variants in gene LAMP2

Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
62 24 195 127 77 1 406

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Danon disease 46 8 126 45 61 0 279
not provided 20 8 26 23 16 0 91
not specified 0 0 31 50 17 1 86
Hypertrophic cardiomyopathy 1 6 37 27 0 0 71
Cardiovascular phenotype 1 0 8 7 6 0 22
Cardiomyopathy 0 0 7 0 2 0 9
History of neurodevelopmental disorder 0 0 1 2 6 0 9
Danon disease; Cardiomyopathy 1 0 1 0 2 0 4
Danon disease; Hypertrophic cardiomyopathy 2 2 0 0 0 0 4
Primary familial hypertrophic cardiomyopathy 0 1 2 0 1 0 4
Primary dilated cardiomyopathy 0 1 2 0 0 0 3
Intellectual disability 0 0 2 0 0 0 2
Isolated Noncompaction of the Ventricular Myocardium 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Danon disease 1 0 0 0 0 0 1
Trifascicular block on electrocardiogram 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 2 81 48 19 0 177
GeneDx 16 4 19 37 22 0 98
Illumina Clinical Services Laboratory,Illumina 0 0 56 26 50 0 97
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 13 26 20 4 1 75
Ambry Genetics 1 0 9 8 7 0 25
OMIM 12 0 0 0 0 0 12
Blueprint Genetics 1 3 5 0 0 0 9
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 7 0 1 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 3 1 2 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 5 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 5 1 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 2 3 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 3 0 1 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 6 0 0 6
Integrated Genetics/Laboratory Corporation of America 0 1 1 0 3 0 5
Baylor Genetics 2 0 1 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 0 2
Mendelics 0 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Human Genetics Laboratory,State University of Rio de Janeiro 0 0 1 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 0 1 0 1
Genetics and Genomics Program,Sidra Medicine 0 0 1 0 0 0 1
Loeys Lab,Universiteit Antwerpen 1 0 0 0 0 0 1

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