ClinVar Miner

Variants studied for X-linked hypohidrotic ectodermal dysplasia

Included ClinVar conditions (2):
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
114 29 39 26 11 206

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EDA 114 29 38 26 11 205
EDA2R 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 69 15 32 26 10 152
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 38 10 0 0 0 48
OMIM 17 0 1 0 0 18
Mendelics 0 1 4 0 0 5
Natera, Inc. 0 0 2 0 2 4
Medical Molecular Genetics Department, National Research Center 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
Centre for Genetic Disorders, Banaras Hindu University 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 1
Biotechnology Lab, Dept of Biomolecular Sciences, University of Urbino 1 0 0 0 0 1

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