ClinVar Miner

Variants in gene EVC2

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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
88 67 180 278 125 643

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ellis-van Creveld syndrome; Curry-Hall syndrome 66 16 40 214 63 398
Ellis-van Creveld syndrome 22 49 108 21 36 228
not provided 8 3 45 38 48 138
not specified 2 0 3 46 39 79
none provided 1 0 6 11 23 41
Curry-Hall syndrome 5 2 2 0 0 9
Jeune thoracic dystrophy 4 5 1 0 0 5
Type IV short rib polydactyly syndrome 1 3 1 0 0 3
Short rib-polydactyly syndrome, Majewski type 2 2 0 0 0 2
Inborn genetic diseases 1 0 0 0 0 1
Meckel-Gruber syndrome 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 67 15 38 227 63 410
Illumina Clinical Services Laboratory,Illumina 0 1 82 20 35 138
GeneDx 4 3 11 37 70 125
Counsyl 9 44 20 1 0 74
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 14 17 28 62
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 19 10 10 43
PreventionGenetics, PreventionGenetics 0 0 0 6 15 21
OMIM 14 0 0 0 0 14
University of Washington Center for Mendelian Genomics, University of Washington 0 9 0 0 0 9
Dan Cohn Lab,University Of California Los Angeles 6 1 2 0 0 9
Baylor Genetics 1 0 7 0 0 8
Fulgent Genetics,Fulgent Genetics 2 1 3 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 1 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 0 0 5
Gharavi Laboratory,Columbia University 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Ambry Genetics 1 0 0 0 0 1
Natera, Inc. 0 0 0 0 1 1
Lineagen, Inc 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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