ClinVar Miner

Variants studied for autosomal recessive hypohidrotic ectodermal dysplasia

Included ClinVar conditions (5):
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
35 9 39 8 16 103

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 30 8 29 6 13 82
EDARADD 5 1 8 2 3 19
CCDC138, EDAR, RANBP2 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 6 35 6 16 79
OMIM 11 0 0 0 0 11
Illumina Clinical Services Laboratory,Illumina 0 1 4 2 0 7
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 2
Institute of Human Genetics,University Hospital Ulm 2 0 0 0 0 2
GeneReviews 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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

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