ClinVar Miner

Variants studied for Cardiofaciocutaneous syndrome 1

Coded as:
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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
28 16 10 1 1 4 54

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRAF 27 15 10 1 1 4 52
KRAS 1 0 0 0 0 0 1
MAP2K2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 11 0 0 0 0 0 11
3billion 8 3 0 0 0 0 11
Mendelics 2 5 0 1 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 1 0 1 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 2 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 5
Baylor Genetics 2 0 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 3
GenomeConnect - CFC International 0 0 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1

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