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
67 68 299 235 128 704

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ellis-van Creveld syndrome 24 43 232 40 66 390
Ellis-van Creveld syndrome; Curry-Hall syndrome 51 24 39 190 33 336
not provided 6 6 43 33 36 123
not specified 0 0 7 26 42 69
none provided 1 0 6 5 16 28
Curry-Hall syndrome 0 1 8 1 1 11
Short rib-polydactyly syndrome, Majewski type 4 4 0 0 0 4
EVC-Related Disorders 0 0 3 0 0 3
Nephronophthisis 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 51 24 38 200 33 346
Illumina Clinical Services Laboratory,Illumina 0 0 168 26 64 258
GeneDx 3 4 5 21 65 98
Natera, Inc. 5 0 35 15 27 82
Counsyl 7 37 35 1 0 80
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 34 4 14 53
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 13 9 20 44
PreventionGenetics, PreventionGenetics 0 0 0 8 28 36
OMIM 6 0 1 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 6
Dan Cohn Lab,University Of California Los Angeles 6 0 0 0 0 6
Baylor Genetics 0 1 4 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 1 0 4
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 2 0 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
Nilou-Genome Lab 0 0 1 1 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Mendelics 0 0 0 0 1 1
Lineagen, Inc 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1
MNM Diagnostics 1 0 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 1

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