ClinVar Miner

Variants in gene LAMP2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
46 23 133 110 40 1 310

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Danon disease 34 6 72 34 4 0 148
not provided 17 8 24 34 27 0 103
not specified 0 0 31 49 16 1 85
Hypertrophic cardiomyopathy 0 7 37 27 0 0 71
Cardiovascular phenotype 0 0 10 6 6 0 22
Cardiomyopathy 0 0 7 0 2 0 9
History of neurodevelopmental disorder 0 0 1 3 5 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 1 0 0 0 2
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 0 35 31 19 0 100
GeneDx 16 4 19 37 22 0 98
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 10 14 26 20 4 1 75
Illumina Clinical Services Laboratory,Illumina 0 0 37 26 0 0 63
Ambry Genetics 0 0 11 8 6 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 5 1 0 7
Mayo Clinic Genetic Testing 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 5 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 0 0 0 4
PreventionGenetics,PreventionGenetics 0 0 0 0 3 0 3
Integrated Genetics/Laboratory Corporation of America 0 1 1 0 1 0 3
Baylor Genetics 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
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
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

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