ClinVar Miner

Variants in gene LAMC2

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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
109 140 236 696 97 1 1194

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 93 26 37 680 87 0 898
Junctional epidermolysis bullosa 12 4 87 18 29 0 149
Junctional epidermolysis bullosa gravis of Herlitz 6 89 8 6 11 1 118
Inborn genetic diseases 0 0 112 4 0 0 116
Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junctional 3B, severe 6 24 0 0 0 0 30
LAMC2-related disorder 0 3 0 20 3 0 26
not specified 0 0 6 3 12 0 20
Junctional epidermolysis bullosa, non-Herlitz type 4 0 2 0 10 0 16
Epidermolysis bullosa, junctional 3B, severe 10 2 1 0 0 0 13
Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junctional 3B, severe 0 0 8 1 0 0 9
Epidermolysis bullosa, junctional 3A, intermediate 3 3 0 0 0 0 6
Abnormality of the skin 0 1 0 0 0 0 1
Amelogenesis imperfecta type 1 0 0 1 0 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 91 23 17 662 45 0 838
Illumina Laboratory Services, Illumina 0 1 87 18 29 0 135
Ambry Genetics 0 0 112 4 0 0 116
GeneDx 1 2 6 2 48 0 59
Counsyl 0 46 6 3 0 0 55
Breakthrough Genomics, Breakthrough Genomics 0 0 3 13 38 0 54
Myriad Genetics, Inc. 1 41 0 0 0 0 42
PreventionGenetics, part of Exact Sciences 0 3 0 20 11 0 34
Fulgent Genetics, Fulgent Genetics 6 24 1 0 0 0 31
CeGaT Center for Human Genetics Tuebingen 1 0 1 21 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 3 6 1 1 0 20
Genome-Nilou Lab 0 0 2 3 11 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 1 0 0 10
Eurofins Ntd Llc (ga) 0 0 5 1 3 0 9
OMIM 8 0 0 0 0 0 8
Biomedical Innovation Departament, CIEMAT 6 0 0 0 0 0 6
Revvity Omics, Revvity 0 2 3 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
3billion 2 0 0 0 0 0 2
Department of Genetics, Suzhou Beikang Medical Laboratory 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 0 0 1 0 0 0 1

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