ClinVar Miner

Variants in gene RUNX2

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Minimum submission review status: Collection method:
Minimum conflict level:
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
111 40 212 85 59 7 482

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 78 26 133 81 27 0 336
Cleidocranial dysostosis 35 12 64 3 34 7 147
Inborn genetic diseases 2 0 22 0 0 0 24
RUNX2-related disorder 3 3 5 2 3 0 16
Cleidocranial dysostosis; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 3 2 2 1 1 0 9
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 3 0 2 0 0 0 5
not specified 0 0 2 0 1 0 3
Cleidocranial dysplasia 1, forme fruste, dental anomalies only 1 0 0 0 0 0 1
Craniosynostosis syndrome 0 0 1 0 0 0 1
Nephrotic syndrome 0 1 0 0 0 0 1
Orofacial cleft 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 68 19 110 69 15 0 281
Illumina Laboratory Services, Illumina 0 0 54 3 34 0 91
GeneDx 12 2 20 12 11 0 57
Ambry Genetics 2 0 22 0 0 0 24
PreventionGenetics, part of Exact Sciences 3 2 5 2 4 0 16
CeGaT Center for Human Genetics Tuebingen 6 3 3 1 3 0 16
OMIM 12 0 0 0 0 0 12
Istanbul Faculty of Medicine, Istanbul University 4 3 1 0 0 0 8
GeneReviews 0 0 0 0 0 7 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 3 0 6
Fulgent Genetics, Fulgent Genetics 2 1 1 1 1 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 0 0 6
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 5 0 0 0 0 0 5
Revvity Omics, Revvity 1 2 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 4
3billion 1 2 1 0 0 0 4
Baylor Genetics 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Eurofins Ntd Llc (ga) 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 1 0 0 0 0 0 1
Department of Clinical Biochemistry, University General Hospital Attikon, Medical School, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana 0 0 1 0 0 0 1

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