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
35 243 192 22 73 4 558

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LAMA3 7 67 155 11 34 0 273
LAMB3 21 79 24 4 25 3 149
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: 22
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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 1 7 0 0 0 0 8
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 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
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

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