ClinVar Miner

Variants studied for Cohen syndrome

Coded as:
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
725 615 2312 2692 157 11 6056

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13B 718 612 2306 2692 156 11 6039
LOC110120801, MIR599, MIR875, VPS13B 3 0 0 0 0 0 3
LOC113783876, VPS13B 0 0 3 0 0 0 3
MIR599, MIR875, VPS13B 2 0 0 0 0 0 2
AMH 0 1 0 0 0 0 1
ANKRD46, ATP6V1C1, AZIN1, BAALC, COX6C, CTHRC1, DCAF13, DCSTAMP, DPYS, FBXO43, FZD6, GRHL2, KCNS2, KLF10, LRP12, NCALD, NIPAL2, ODF1, OSR2, PABPC1, POLR2K, POP1, RGS22, RIMS2, RNF19A, RRM2B, SLC25A32, SNX31, SPAG1, STK3, UBR5, UBR5-DT, VPS13B, YWHAZ, ZFPM2, ZNF706 0 0 1 0 0 0 1
ERICH5, POP1, RIDA, VPS13B 0 1 0 0 0 0 1
KCNS2, NIPAL2, OSR2, POP1, STK3, VPS13B 0 0 1 0 0 0 1
KCNS2, OSR2, STK3, VPS13B 1 0 0 0 0 0 1
LOC126860453, VPS13B 0 1 0 0 0 0 1
LOC130000825, VPS13B 0 0 1 0 0 0 1
MYO7A 0 0 0 0 1 0 1
OSR2, STK3, VPS13B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 639 128 1783 2627 127 0 5304
Natera, Inc. 41 147 685 97 70 0 1040
Counsyl 4 210 59 20 0 0 293
Illumina Laboratory Services, Illumina 1 0 204 32 34 0 271
Fulgent Genetics, Fulgent Genetics 23 84 65 2 1 0 175
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 33 21 0 0 0 0 54
Revvity Omics, Revvity 6 15 31 0 0 0 52
Genome-Nilou Lab 1 4 22 13 9 0 49
New York Genome Center 1 3 40 0 0 0 44
Myriad Genetics, Inc. 11 31 1 0 0 0 43
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 23 2 0 0 29
3billion 14 4 8 1 0 0 27
Baylor Genetics 3 0 24 0 0 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 22 2 1 0 25
OMIM 16 0 0 0 0 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 14 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 10 0 14
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 8 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 5 3 4 2 0 0 14
Mendelics 4 0 1 4 2 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 2 2 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 3 0 0 0 10
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 8 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 4 0 0 0 0 8
Service de Génétique Moléculaire, Hôpital Robert Debré 1 5 0 2 0 0 8
Department of Molecular and Human Genetics, Baylor College of Medicine 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 6 0 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 1 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 5
Molecular Endocrinology Laboratory, Christian Medical College 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 0 0 0 0 4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 2 0 0 0 4
Variantyx, Inc. 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 1 0 3
GeneReviews 0 0 0 0 0 3 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 0 2 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 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
Health Biotechnology Lab, Government College University Faisalabad 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory of Immunopathology and Genetics, Medical Laboratory of Pediatric Oncology and Hematology, Central Clinical Hospital of the Medical University of Lodz 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Medical Genetic Department, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Ningxia Clinical Research Institute, People's Hospital of Ningxia Hui Autonomous Region 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1

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