ClinVar Miner

Variants in gene EPG5

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
179 75 1002 1270 166 58 2634

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Vici syndrome 165 56 790 1179 83 5 2246
Inborn genetic diseases 4 1 331 26 0 0 362
not provided 15 18 92 97 112 1 319
EPG5-related disorder 2 6 6 54 13 0 81
not specified 0 0 17 18 22 0 57
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Melanoma 0 0 0 0 0 8 8
Gastric cancer 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Neurodevelopmental disorder with parkinsonism or other movement abnormalities 5 0 0 0 0 0 5
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Colon adenocarcinoma 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Microcephaly 0 0 3 0 0 0 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Intellectual disability 0 0 0 0 2 0 2
Limb-girdle muscular dystrophy 0 0 0 0 2 0 2
Syndromic retinitis pigmentosa 1 1 0 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Autosomal recessive EPG5-related disorders 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Global developmental delay 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 135 24 747 1183 82 0 2171
Ambry Genetics 4 1 331 26 0 0 362
GeneDx 12 14 66 53 94 0 239
PreventionGenetics, part of Exact Sciences 2 6 6 54 13 0 81
Breakthrough Genomics, Breakthrough Genomics 0 0 6 25 47 0 78
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 52 52
CeGaT Center for Human Genetics Tuebingen 1 0 8 28 6 0 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 14 13 0 0 32
Revvity Omics, Revvity 1 3 19 0 0 0 23
SIB Swiss Institute of Bioinformatics 5 11 5 0 0 0 21
Fulgent Genetics, Fulgent Genetics 2 7 5 2 0 0 16
OMIM 16 0 0 0 0 0 16
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 16 0 16
Baylor Genetics 2 1 10 0 0 0 13
Daryl Scott Lab, Baylor College of Medicine 5 1 5 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 6 2 0 10
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 7 0 0 0 0 0 7
Eurofins Ntd Llc (ga) 2 0 4 1 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 2 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 2 3 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 1 1 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
3billion 3 1 0 1 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 4 0 5
Mendelics 3 0 1 0 1 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 0 4 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 2 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 1 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Next Generation Genetic Polyclinic 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 1 0 1 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 0 1 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 1 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 2 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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