ClinVar Miner

Variants in gene EVC

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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
31 47 143 178 119 460

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ellis-van Creveld syndrome 22 40 82 76 44 256
not provided 5 6 43 110 62 211
Curry-Hall syndrome 0 0 45 75 44 164
not specified 0 0 9 26 45 74
Ellis-van Creveld syndrome; Curry-Hall syndrome 8 4 14 0 5 31
Short rib-polydactyly syndrome, Majewski type 4 0 0 0 0 4
EVC-Related Disorders 0 0 3 0 0 3
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 50 75 44 169
Invitae 11 4 13 104 33 165
GeneDx 3 4 5 21 65 98
Counsyl 7 37 35 1 0 80
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 34 4 14 53
PreventionGenetics,PreventionGenetics 0 0 0 8 28 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 10 6 15 32
OMIM 6 0 1 0 0 7
Dan Cohn Lab,University Of California Los Angeles 6 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 1 0 0 0 2
Cancer Diagnostics Division,Gene Solutions 2 0 0 0 0 2
Mendelics 0 0 0 0 1 1
Lineagen, Inc 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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