ClinVar Miner

Variants studied for Ellis-van Creveld syndrome

Included ClinVar conditions (2):
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
59 89 191 92 59 466

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 26 43 95 76 46 274
EVC2 33 46 92 12 11 184
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 1 108 89 54 250
Counsyl 17 81 55 2 0 155
Invitae 25 7 24 1 10 67
OMIM 16 0 1 0 0 17
Fulgent Genetics,Fulgent Genetics 2 1 3 0 0 6
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
Baylor Genetics 0 0 2 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 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

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