ClinVar Miner

Variants studied for Cardiofaciocutaneous 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 not provided total
26 15 8 1 1 4 49

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 25 14 8 1 1 4 47
KRAS 1 0 0 0 0 0 1
MAP2K2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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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
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
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 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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