ClinVar Miner

Variants studied for Junctional epidermolysis bullosa gravis of Herlitz

Coded as:
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
39 243 192 22 73 4 561

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LAMA3 7 67 155 11 34 0 273
LAMB3 25 79 24 4 25 3 152
LAMC2 6 89 8 6 11 1 118
LAMA3, LOC126862707 1 5 3 1 1 0 11
LAMC2, LOC126805948 0 2 1 0 2 0 5
LAMB3, LOC126805999 0 0 1 0 0 0 1
LAMB3, MIR4260 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 8 171 87 7 0 0 273
Illumina Laboratory Services, Illumina 0 0 94 8 20 0 122
Genome-Nilou Lab 0 1 13 8 58 0 80
Myriad Genetics, Inc. 4 62 0 0 0 0 66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 2 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 2 8 0 0 0 0 10
Baylor Genetics 5 2 0 0 0 0 7
GeneReviews 3 0 0 0 0 4 7
OMIM 6 0 0 0 0 0 6
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Limin Genodermatosis Research Center, The First Affiliated Hospital of Soochow University 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Mendelics 1 0 0 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 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. 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.