ClinVar Miner

Variants studied for Fraser syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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
63 43 392 100 139 710

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FRAS1 60 33 354 89 125 635
FREM2 1 6 17 2 6 32
GRIP1 0 1 13 7 6 26
FRAS1, LOC126807088 1 1 7 2 0 11
FRAS1, LOC126807089 1 1 1 0 2 5
FREM2, LOC130009588 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 304 54 121 479
Fulgent Genetics, Fulgent Genetics 7 8 97 49 3 164
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 30 2 6 0 0 38
Revvity Omics, Revvity 4 4 27 2 0 37
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 33 34
Genome-Nilou Lab 0 0 0 0 25 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 14 0 0 0 16
OMIM 8 0 0 0 0 8
Baylor Genetics 3 2 3 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 8 8
Mendelics 0 0 0 0 5 5
3billion 1 1 1 2 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 2 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 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
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 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
Suma Genomics, Suma Genomics 1 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 1

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