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
82 21 23 0 2 124

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
EDA 82 21 22 2 123
EDA2R 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance benign total
Invitae 37 10 22 2 71
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 38 10 0 0 48
OMIM 17 0 1 0 18
Centre for Genetic Disorders, Banaras Hindu University 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 1

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