ClinVar Miner

Variants studied for Primary ciliary dyskinesia 3

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
79 331 471 76 98 2 1006

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNAH5 72 323 463 73 94 2 978
DNAH5, LOC126807318 0 7 3 2 3 0 14
DNAH5, LOC107457585 0 1 5 1 1 0 7
BACH2 1 0 0 0 0 0 1
CCDC40 1 0 0 0 0 0 1
DNAH11 1 0 0 0 0 0 1
GAS2L2 1 0 0 0 0 0 1
MCIDAS 1 0 0 0 0 0 1
MPEG1 1 0 0 0 0 0 1
NFKB1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 3 1 333 32 50 0 419
Fulgent Genetics, Fulgent Genetics 29 104 49 14 1 0 197
Myriad Genetics, Inc. 1 190 0 0 0 0 191
Pars Genome Lab 0 0 1 4 65 0 70
Genome-Nilou Lab 1 2 34 7 21 0 65
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 14 17 21 0 55
Counsyl 0 4 23 13 8 0 48
Revvity Omics, Revvity 9 10 21 0 0 0 40
Johns Hopkins Genomics, Johns Hopkins University 4 2 13 2 0 0 21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 4 11 2 0 0 20
Baylor Genetics 3 0 11 0 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 2 2 8 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 1 1 9 0 0 0 11
OMIM 10 0 0 0 0 0 10
New York Genome Center 1 2 5 0 0 0 8
Pulmonary Medicine, Postgraduate Institute of Medical Education and Research 8 0 0 0 0 0 8
Biology Pathology Center, Lille University Hospital 5 2 0 0 0 0 7
3billion, Medical Genetics 2 1 3 0 0 0 6
Genomics England Pilot Project, Genomics England 2 4 0 0 0 0 6
Department of Human Genetics, Hannover Medical School 0 1 5 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
DASA 4 1 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 2 0 0 0 4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 2 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Mendelics 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1 0 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Shengli Clinical Medical College Of Fujian Medical University, Fujian Provincial Hospital 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Arcensus 0 0 1 0 0 0 1

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