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 total
80 86 132 181 49 478

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 54 7 11 166 21 259
Junctional epidermolysis bullosa 7 4 106 17 32 166
Junctional epidermolysis bullosa gravis of Herlitz 21 76 16 2 0 110
not specified 0 0 2 2 19 22
Junctional epidermolysis bullosa, non-Herlitz type 14 0 0 0 0 14
Amelogenesis imperfecta, type IA 7 1 2 0 0 10
Amelogenesis imperfecta, type IA; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 3 1 0 0 0 4
Autistic disorder of childhood onset 0 0 1 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 44 5 1 165 20 235
Illumina Clinical Services Laboratory,Illumina 1 2 106 17 32 158
Counsyl 6 52 16 2 0 76
GeneDx 20 1 0 0 2 23
Integrated Genetics/Laboratory Corporation of America 13 3 2 1 3 22
Myriad Women's Health, Inc. 2 20 0 0 0 22
OMIM 17 0 0 0 0 17
PreventionGenetics, PreventionGenetics 0 0 0 1 16 17
Baylor Genetics 5 2 2 0 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 3 0 1 5
Biomedical Innovation Departament, CIEMAT 5 0 0 0 0 5
GeneReviews 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 1 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 1 1 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 1 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 2 0 0 0 0 2
Limin Genodermatosis Research Center,The First Affiliated Hospital of Soochow University 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
NxGen MDx 0 1 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.