ClinVar Miner

Variants in gene EPG5

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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 not provided total
139 53 817 1108 161 3 2214

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Vici syndrome 131 38 736 1035 81 2 2001
not provided 8 12 61 76 101 1 250
Inborn genetic diseases 3 1 110 11 0 0 125
EPG5-related condition 2 5 4 45 10 0 66
not specified 0 0 3 3 21 0 27
Microcephaly 0 0 3 0 0 0 3
Syndromic retinitis pigmentosa 1 1 0 0 0 0 2
Global developmental delay 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 106 21 705 1041 80 0 1953
GeneDx 6 8 44 53 94 0 205
Ambry Genetics 3 1 110 11 0 0 125
PreventionGenetics, part of Exact Sciences 2 5 4 45 10 0 66
CeGaT Center for Human Genetics Tuebingen 0 0 5 14 5 0 24
SIB Swiss Institute of Bioinformatics 5 11 5 0 0 0 21
Revvity Omics, Revvity 1 3 16 0 0 0 20
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 16 0 16
Baylor Genetics 2 1 10 0 0 0 13
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
OMIM 8 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 2 0 7
Eurofins Ntd Llc (ga) 2 0 4 1 0 0 7
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 7 0 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 2 3 0 7
Fulgent Genetics, Fulgent Genetics 1 0 3 2 0 0 6
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 4 0 5
Mendelics 3 0 1 0 1 0 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 2 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 3
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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 1 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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