ClinVar Miner

Variants studied for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Coded as:
Minimum submission review status: Collection method:
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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
15 4 5 2 6 29

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EDAR, RANBP2 14 4 2 0 6 23
EDARADD 0 0 3 2 0 5
EDAR, LOC126806303, LOC126806304, RANBP2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 9 0 0 0 0 9
Illumina Laboratory Services, Illumina 0 1 4 2 0 7
Genome-Nilou Lab 0 0 0 0 6 6
Institute of Human Genetics, University of Ulm 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1

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