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
606 437 1984 2459 157 10 5294

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13B 602 435 1978 2459 156 10 5281
LOC113783876, VPS13B 0 0 3 0 0 0 3
LOC110120801, MIR599, MIR875, VPS13B 2 0 0 0 0 0 2
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
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

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 544 110 1666 2389 126 0 4835
Natera, Inc. 22 11 445 90 70 0 638
Counsyl 4 210 59 20 0 0 293
Illumina Laboratory Services, Illumina 1 0 214 41 36 0 292
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Fulgent Genetics, Fulgent Genetics 11 5 53 2 1 0 72
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 21 0 0 0 0 42
Myriad Genetics, Inc. 2 29 2 0 0 0 33
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
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 2 4 2 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 2 3 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 3 0 0 0 7
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 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
3billion 2 1 1 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
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 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
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
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 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 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

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