ClinVar Miner

Variants studied for Fraser syndrome 1

Included ClinVar conditions (1):
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 total
77 116 822 104 136 1209

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 71 100 796 102 123 1147
FRAS1, LOC126807088 1 2 15 2 0 20
FREM2 3 7 3 0 6 19
FRAS1, LOC126807089 2 4 8 0 2 15
GRIP1 0 2 0 0 5 7
FREM2, LOC130009588 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 12 67 558 63 3 703
Illumina Laboratory Services, Illumina 0 0 265 43 115 423
Revvity Omics, Revvity 4 8 29 2 0 43
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 30 2 6 0 0 38
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 33 34
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 22 4 1 29
Genome-Nilou Lab 0 0 0 0 25 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 17 0 0 0 24
3billion 3 1 3 2 0 9
Baylor Genetics 3 2 3 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 8 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 5 2 0 0 8
OMIM 8 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 1 0 0 5
Mendelics 0 0 0 0 5 5
Variantyx, Inc. 2 3 0 0 0 5
Gharavi Laboratory, Columbia University 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 3
Molecular Genetics laboratory, Necker Hospital 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 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
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 2 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Shieh Lab, University of California, San Francisco 2 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 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
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Manipal Hospitals, Manipal Hospital 1 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1

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