ClinVar Miner

Variants studied for Primary ciliary dyskinesia 3

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
65 243 449 69 98 2 884

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 58 235 442 66 94 2 857
DNAH5, LOC126807318 0 7 3 2 3 0 14
DNAH5, LOC107457585 0 1 4 1 1 0 6
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: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 1 335 32 50 0 420
Myriad Genetics, Inc. 1 190 0 0 0 0 191
Fulgent Genetics, Fulgent Genetics 13 11 39 14 1 0 78
Pars Genome Lab 0 0 1 4 65 0 70
Genome-Nilou Lab 1 2 34 7 21 0 65
Counsyl 0 4 23 13 8 0 48
Revvity Omics, Revvity 9 10 21 0 0 0 40
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 7 8 21 0 37
Johns Hopkins Genomics, Johns Hopkins University 4 2 13 2 0 0 21
Baylor Genetics 3 0 11 0 0 0 14
Genetics and Molecular Pathology, SA Pathology 1 1 9 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 4 5 1 0 0 11
OMIM 10 0 0 0 0 0 10
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
New York Genome Center 1 0 5 0 0 0 6
3billion 2 1 3 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 4 0 0 0 6
Genomics England Pilot Project, Genomics England 2 4 0 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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 2 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 1 3 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
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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