ClinVar Miner

Variants studied for Cardiofaciocutaneous syndrome 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
30 18 14 1 1 5 62

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRAF 28 17 13 1 1 5 58
BRAF, LOC126860202 0 0 1 0 0 0 1
KRAS 1 0 0 0 0 0 1
MAP2K1 1 0 0 0 0 0 1
MAP2K2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3billion 13 3 0 0 0 0 16
OMIM 11 0 0 0 0 0 11
Mendelics 2 5 0 1 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 2 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 1 0 1 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
GenomeConnect - CFC International 0 0 0 0 0 4 4
Baylor Genetics 2 0 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1

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