ClinVar Miner

Variants studied for Hypohidrotic X-linked ectodermal dysplasia

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
96 28 30 5 10 160

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 96 28 29 5 10 159
EDA2R 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 54 14 25 5 10 108
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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 2
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

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