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
141 120 408 447 156 1142

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC 63 62 264 212 81 612
EVC2 76 58 140 231 72 520
EVC, EVC2 1 0 1 4 3 6
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 1
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 120 39 76 405 97 737
Illumina Clinical Services Laboratory,Illumina 0 1 248 50 101 398
Counsyl 16 81 55 2 0 154
Natera, Inc. 5 0 35 15 28 83
OMIM 16 0 1 0 0 17
Baylor Genetics 0 1 9 0 0 10
Fulgent Genetics,Fulgent Genetics 2 1 3 0 0 6
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 1 4 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 5
Dan Cohn Lab,University Of California Los Angeles 5 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 0 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
Nilou-Genome Lab 0 0 1 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 1

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