ClinVar Miner

Variants in gene EVC2

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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
36 49 124 59 48 257

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Chondroectodermal dysplasia 20 45 24 1 0 87
Ellis-van Creveld Syndrome 3 0 60 10 8 81
not specified 2 0 2 44 36 75
not provided 6 3 37 6 8 60
Chondroectodermal dysplasia; Curry-Hall syndrome 6 2 9 3 27 47
Curry-Hall syndrome 4 0 1 0 0 5
Jeune thoracic dystrophy 4 0 1 0 0 5
Type IV short rib polydactyly syndrome 1 1 1 0 0 3
Short rib-polydactyly syndrome, Majewski type 2 0 0 0 0 2
Meckel-Gruber syndrome 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 60 10 8 79
Counsyl 10 44 20 1 0 75
GeneDx 3 3 11 30 24 71
Invitae 6 1 7 3 27 44
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 19 10 10 43
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 6 7 9 24
PreventionGenetics 0 0 0 6 15 21
OMIM 14 0 0 0 0 14
Dan Cohn Lab,University Of California Los Angeles 6 1 2 0 0 9
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
Gharavi Laboratory,Columbia University 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 3
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 2
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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 1

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