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
120 42 345 309 113 2 781

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Danon disease 99 18 255 180 76 1 608
not provided 22 13 67 74 50 0 209
Cardiovascular phenotype 11 2 60 60 10 0 143
not specified 0 0 36 53 23 1 98
Hypertrophic cardiomyopathy 1 6 37 28 2 0 73
Cardiomyopathy 1 1 12 5 4 0 23
LAMP2-related disorder 0 0 2 15 1 0 18
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
Intellectual disability 0 0 2 0 0 0 2
History of neurodevelopmental disorder 0 0 0 1 0 0 1
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: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 73 6 202 170 32 0 483
GeneDx 16 8 54 60 61 0 199
Ambry Genetics 11 2 57 61 10 0 141
Illumina Laboratory Services, Illumina 0 0 56 26 50 0 97
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 13 26 19 5 1 75
CeGaT Center for Human Genetics Tuebingen 2 2 5 20 0 0 29
Fulgent Genetics, Fulgent Genetics 0 0 22 3 1 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 9 5 8 0 24
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 1 12 5 4 0 23
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 4 14 5 0 23
PreventionGenetics, part of Exact Sciences 0 0 2 15 4 0 21
Clinical Genetics, Academic Medical Center 0 0 2 4 14 0 20
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
Breakthrough Genomics, Breakthrough Genomics 0 0 1 8 2 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 2 3 0 10
Blueprint Genetics 1 3 5 0 0 0 9
Eurofins Ntd Llc (ga) 2 0 3 1 2 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 7 0 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 3 0 1 0 6
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
3billion 1 1 1 0 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 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
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 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
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 1 0 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 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
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 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
Department of Cardiovascular Medicine, The University of Tokyo, Graduate School of Medicine 0 1 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 1

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