ClinVar Miner

Variants studied for autosomal recessive hypohidrotic ectodermal dysplasia

Included ClinVar conditions (7):
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
59 16 161 42 74 342

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EDAR, RANBP2 48 14 103 31 47 235
EDARADD 8 2 56 11 27 102
CCDC138, EDAR, LOC126806303, LOC129388897, LOC129388898, LOC129934529, RANBP2 0 0 2 0 0 2
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 1 0 0 0 0 1
EDAR, LOC126806303, LOC126806304, RANBP2 1 0 0 0 0 1
WNT10A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 11 71 27 33 181
Illumina Laboratory Services, Illumina 0 1 93 17 57 168
OMIM 11 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 9 9
Baylor Genetics 0 1 2 0 0 3
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 3
Institute of Human Genetics, University of Ulm 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 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
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
Breda Genetics srl 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
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
ADYU, Molecular Biology and Genetic Lab, Adiyaman University 1 0 0 0 0 1

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