ClinVar Miner

Variants studied for Chondroectodermal dysplasia

Coded as:
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
37 84 64 2 0 180

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
EVC 17 39 37 1 90
EVC2 20 45 24 1 87
CCDC39 0 0 1 0 1
TRAF3IP1 0 0 1 0 1
WDR35 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Counsyl 17 80 55 2 154
OMIM 15 0 1 0 16
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 1 4 0 6
Invitae 5 0 0 0 5
Illumina Clinical Services Laboratory,Illumina 0 1 2 0 3
Baylor Miraca Genetics Laboratories, 0 0 2 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 1

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