ClinVar Miner

Variants studied for Cohen syndrome

Coded as:
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
696 515 2042 2596 158 10 5630

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13B 689 513 2036 2596 157 10 5614
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
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: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 620 128 1725 2524 126 0 5123
Natera, Inc. 22 11 445 90 70 0 638
Counsyl 4 210 59 20 0 0 293
Illumina Laboratory Services, Illumina 1 0 211 41 36 0 289
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 28 22 0 0 0 0 50
Genome-Nilou Lab 1 4 22 13 9 0 49
Revvity Omics, Revvity 5 13 27 0 0 0 45
New York Genome Center 1 3 40 0 0 0 44
Myriad Genetics, Inc. 2 29 2 0 0 0 33
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 23 2 0 0 29
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
3billion 9 3 2 1 0 0 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 8 0 0 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 10 0 14
Institute of Human Genetics, University of Leipzig Medical Center 4 2 5 2 0 0 13
Mendelics 4 0 1 4 2 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 3 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 2 2 0 0 0 10
Service de Génétique Moléculaire, Hôpital Robert Debré 1 5 0 2 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 4 0 0 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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Molecular Endocrinology Laboratory, Christian Medical College 0 0 5 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 4 0 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 1 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Athena Diagnostics 0 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 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
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 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
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 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

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