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
107 36 316 262 111 2 692

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Danon disease 85 15 229 153 75 1 537
not provided 22 9 52 66 49 0 190
Cardiovascular phenotype 8 2 55 34 9 0 108
not specified 0 0 38 44 22 1 90
Hypertrophic cardiomyopathy 1 6 37 28 2 0 73
Cardiomyopathy 1 1 12 5 4 0 23
LAMP2-related condition 0 0 0 15 1 0 16
History of neurodevelopmental disorder 0 0 0 2 5 0 7
Primary dilated cardiomyopathy 1 2 2 0 0 0 5
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
Inborn genetic diseases 0 0 2 0 0 0 2
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: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 61 5 178 143 31 0 418
GeneDx 17 5 41 61 61 0 185
Ambry Genetics 8 2 56 35 9 0 110
Illumina Laboratory Services, Illumina 0 0 56 26 50 0 97
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 13 26 20 4 1 75
CeGaT Center for Human Genetics Tuebingen 2 1 5 20 0 0 28
Fulgent Genetics, Fulgent Genetics 0 0 21 3 1 0 25
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 1 12 5 4 0 23
Clinical Genetics, Academic Medical Center 0 0 2 4 14 0 20
PreventionGenetics, part of Exact Sciences 0 0 0 15 4 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 10 2 5 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 10 5 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 9 5 0 15
OMIM 13 0 0 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 9 1 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 9 1 0 11
Blueprint Genetics 1 3 5 0 0 0 9
Eurofins Ntd Llc (ga) 2 0 3 1 2 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 2 3 0 8
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 5 0 5
Baylor Genetics 2 0 2 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Cohesion Phenomics 0 0 0 2 2 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 1 0 0 3
Mendelics 1 0 0 1 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
KTest Genetics, KTest 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 1 0 0 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Loeys Lab, Universiteit Antwerpen 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 1 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1

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