ClinVar Miner

Variants in gene EDA

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 not provided total
98 39 40 2 5 1 173

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypohidrotic X-linked ectodermal dysplasia 82 21 22 0 2 0 123
not provided 23 15 1 0 1 0 40
not specified 0 1 18 1 4 0 22
Tooth agenesis, selective, X-linked, 1 6 1 0 0 0 1 8
Hypohidrotic X-linked ectodermal dysplasia; Tooth agenesis, selective, X-linked, 1 1 1 0 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 0 2
Partial congenital absence of teeth 0 2 0 0 0 0 2
See cases 1 0 0 1 0 0 2
Ectodermal dysplasia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 38 12 18 0 3 0 71
Invitae 37 10 22 0 2 0 71
GeneDx 20 15 0 2 0 0 37
OMIM 23 0 0 0 0 0 23
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 1 0 2 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 0 0 1 0 3
PreventionGenetics 0 0 0 0 3 0 3
Ambry Genetics 0 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 0 2
Centre for Genetic Disorders, Banaras Hindu University 1 0 0 0 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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