ClinVar Miner

Variants in gene LAMA3

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
131 152 702 1182 169 57 2242

Condition and significance breakdown #

Total conditions: 38
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 114 51 91 1138 166 0 1528
Inborn genetic diseases 0 0 487 32 0 0 519
Junctional epidermolysis bullosa gravis of Herlitz 7 67 155 11 34 0 273
Laryngo-onycho-cutaneous syndrome 2 3 94 10 33 0 142
LAMA3-related disorder 0 4 8 43 11 0 66
not specified 0 0 20 6 11 0 37
Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 4 28 0 0 0 0 32
Junctional epidermolysis bullosa, non-Herlitz type 1 2 5 2 21 0 31
Junctional epidermolysis bullosa 9 10 5 0 0 0 24
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 0 2 21 1 0 0 24
Epidermolysis bullosa, junctional 2B, severe 6 5 2 1 0 0 14
Epidermolysis bullosa, junctional 2A, intermediate 5 4 0 0 0 0 9
Gastric cancer 0 0 0 0 0 9 9
Malignant tumor of esophagus 0 0 0 0 0 8 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Papillary renal cell carcinoma type 1 0 0 0 0 0 6 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Colon adenocarcinoma 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Interstitial lung disease 2 0 0 1 0 0 0 1
LAMA3-Related Junctional Epidermolysis Bullosa 1 0 0 0 0 0 1
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 45
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 104 45 47 1118 77 0 1391
Ambry Genetics 0 0 487 32 0 0 519
GeneDx 8 2 19 4 106 0 139
Counsyl 3 65 64 2 0 0 134
Illumina Laboratory Services, Illumina 0 0 91 8 19 0 117
Breakthrough Genomics, Breakthrough Genomics 0 0 4 17 71 0 92
PreventionGenetics, part of Exact Sciences 0 3 8 44 18 0 73
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 57 57
Fulgent Genetics, Fulgent Genetics 4 26 9 0 0 0 39
CeGaT Center for Human Genetics Tuebingen 2 0 6 23 2 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 5 20 0 2 0 33
Genome-Nilou Lab 0 0 2 3 21 0 26
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 22 2 0 0 25
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 2 2 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 8 0 8
Revvity Omics, Revvity 2 4 2 0 0 0 8
Myriad Genetics, Inc. 2 5 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 6 1 0 0 0 7
Eurofins Ntd Llc (ga) 1 0 4 0 1 0 6
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Biomedical Innovation Departament, CIEMAT 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
3billion 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.