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
47 96 348 67 121 652

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 25 47 236 42 82 415
EVC2 22 49 108 21 37 229
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: 26
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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
Natera, Inc. 5 0 35 15 28 83
Nilou-Genome Lab 0 3 6 3 19 31
Pars Genome Lab 0 0 0 1 28 29
OMIM 16 0 1 0 0 17
Baylor Genetics 0 1 9 0 0 10
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 1 4 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 5
Dan Cohn Lab,University Of California Los Angeles 5 0 0 0 0 5
Invitae 4 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 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
Genomics England Pilot Project,Genomics England 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 1

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