ClinVar Miner

Variants studied for Primary ciliary dyskinesia 7

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
67 104 276 48 57 4 520

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNAH11 61 90 254 42 54 4 474
DNAH11, LOC126859961 3 8 8 3 2 0 22
CDCA7L, DNAH11 2 6 11 3 1 0 20
DNAH11, LOC126859962 1 0 3 0 0 0 4

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 18 37 70 0 0 0 125
Fulgent Genetics, Fulgent Genetics 9 25 46 16 3 0 99
Illumina Laboratory Services, Illumina 0 1 79 3 1 0 84
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 18 27 27 0 73
Revvity Omics, Revvity 5 5 29 0 0 0 39
Genome-Nilou Lab 0 0 0 0 28 0 28
Baylor Genetics 4 1 15 0 0 0 20
Genetics and Molecular Pathology, SA Pathology 0 3 9 2 0 0 14
Johns Hopkins Genomics, Johns Hopkins University 2 1 9 1 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 2 5 3 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 2 0 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 4 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 3 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 3 4 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 2 0 0 0 6
New York Genome Center 0 1 5 0 0 0 6
OMIM 5 0 0 0 0 0 5
Biology Pathology Center, Lille University Hospital 5 0 0 0 0 0 5
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 4 1 0 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 2 0 0 0 4
Undiagnosed Diseases Network, NIH 2 1 1 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 0 0 0 0 3
3billion 1 0 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 1 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Department of Medical Genetics, Tarbiat Modares University 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1

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