ClinVar Miner

Variants in gene LAMB3

See also:
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
171 149 229 737 92 3 1285

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 150 34 51 717 89 0 1032
Junctional epidermolysis bullosa 16 9 102 16 32 0 174
Junctional epidermolysis bullosa gravis of Herlitz 21 79 24 4 25 3 149
Inborn genetic diseases 0 0 72 4 0 0 76
Junctional epidermolysis bullosa, non-Herlitz type 20 4 7 0 24 0 53
Amelogenesis imperfecta type 1A 5 4 5 0 23 0 37
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 3 32 0 0 0 0 35
not specified 0 0 14 2 21 0 35
LAMB3-related condition 4 1 1 16 3 0 25
Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 9 1 4 0 0 0 14
Abnormality of the skin 1 1 0 0 0 0 2
Amelogenesis imperfecta 1 0 0 0 0 0 1
Autism 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 146 28 35 714 54 0 977
Illumina Laboratory Services, Illumina 1 2 102 16 32 0 153
GeneDx 23 4 2 1 62 0 92
Ambry Genetics 0 0 72 4 0 0 76
Counsyl 5 52 16 2 0 0 75
Myriad Genetics, Inc. 4 52 0 0 0 0 56
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 7 14 1 5 0 48
PreventionGenetics, part of Exact Sciences 4 1 1 17 19 0 42
Genome-Nilou Lab 0 1 9 2 24 0 36
OMIM 17 0 0 0 0 0 17
CeGaT Center for Human Genetics Tuebingen 2 0 5 7 1 0 15
Fulgent Genetics, Fulgent Genetics 9 1 4 0 0 0 14
Revvity Omics, Revvity 7 2 4 0 0 0 13
Baylor Genetics 4 3 2 0 0 0 9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 3 2 0 0 0 7
Eurofins Ntd Llc (ga) 1 0 3 0 1 0 5
Biomedical Innovation Departament, CIEMAT 5 0 0 0 0 0 5
GeneReviews 1 0 0 0 0 3 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 1 0 4
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 0 2 2 0 0 0 4
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
3billion 2 0 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 2 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 0 0 2
Pars Genome Lab 1 0 0 0 1 0 2
Limin Genodermatosis Research Center, The First Affiliated Hospital of Soochow University 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Dental Genetics Laboratory, Seoul National University School of Dentistry 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.