ClinVar Miner

Variants studied for Fraser syndrome

Included ClinVar conditions (4):
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 total
81 49 752 172 223 1239

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FRAS1 59 30 355 87 125 632
FREM2 16 15 289 55 83 448
GRIP1 4 1 84 27 13 125
FRAS1, LOC126807088 1 1 7 2 0 11
FRAS1, LOC126807089 1 1 1 0 2 5
FREM2, LOC130009588 0 1 1 1 0 3
ADAMTS14 0 0 1 0 0 1
AIPL1 0 0 1 0 0 1
ASPA, SPATA22 0 0 1 0 0 1
BCLAF1 0 0 1 0 0 1
BORCS6 0 0 1 0 0 1
GNB5 0 0 1 0 0 1
LSM10 0 0 1 0 0 1
MED23 0 0 1 0 0 1
MPC1 0 0 1 0 0 1
MYO18B 0 0 1 0 0 1
ODAD1 0 0 1 0 0 1
PTCH1 0 0 1 0 0 1
TLCD3A 0 0 1 0 0 1
WDR81 0 0 1 0 0 1
ZXDA 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 600 97 208 904
Fulgent Genetics, Fulgent Genetics 8 10 177 87 7 289
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 34 3 6 0 0 43
Revvity Omics, Revvity 4 4 30 2 0 40
Genome-Nilou Lab 0 0 0 0 36 36
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 33 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 14 0 0 0 16
Department of Molecular Bıology and Genetics, Istanbul Technical University 1 0 15 0 0 16
OMIM 14 0 0 0 0 14
Baylor Genetics 3 1 4 1 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 8 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 4 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 6
Mendelics 0 0 0 0 5 5
3billion 1 2 2 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 1 3
Molecular Genetics laboratory, Necker Hospital 0 3 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 1 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 2
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 1 0 0 0 2
Shieh Lab, University of California, San Francisco 2 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Manipal Hospitals, Manipal Hospital 1 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 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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