ClinVar Miner

Variants studied for Ellis-van Creveld syndrome

Coded as:
Minimum submission review status: Collection method:
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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
44 86 309 52 101 577

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC 23 41 200 27 64 347
EVC2 21 45 105 21 35 222
EVC, EVC2 0 0 1 4 2 5
CCDC39 0 0 1 0 0 1
TRAF3IP1 0 0 1 0 0 1
WDR35 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 248 50 101 398
Counsyl 16 81 55 2 0 154
OMIM 16 0 1 0 0 17
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 1 4 0 0 6
Dan Cohn Lab,University Of California Los Angeles 5 0 0 0 0 5
Invitae 4 0 0 0 0 4
Baylor Genetics 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Cancer Diagnostics Division,Gene Solutions 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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