ClinVar Miner

Variants in gene DNAH11

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
415 234 1807 3293 1501 62 6243

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 376 113 1467 3050 1204 0 5581
not provided 22 26 243 243 355 0 837
Primary ciliary dyskinesia 7 67 105 273 47 58 4 519
not specified 1 0 33 89 131 0 241
DNAH11-related disorder 8 10 43 71 5 0 137
Uterine corpus endometrial carcinoma 0 0 0 0 0 16 16
Lung cancer 0 0 0 0 0 10 10
Malignant tumor of esophagus 0 0 0 0 0 10 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 8 8
Acute myeloid leukemia 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 5 5
Respiratory ciliopathies including non-CF bronchiectasis 4 1 0 0 0 0 5
Thymoma 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Hepatocellular carcinoma 0 0 0 0 0 4 4
Laterality defects, autosomal dominant 0 3 0 0 0 0 3
Melanoma 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Ciliary dyskinesia, primary, 37 0 1 1 0 0 0 2
Congenital portosystemic shunt 0 0 2 0 0 0 2
Familial cancer of breast 0 0 0 0 0 2 2
Male infertility 0 0 2 0 0 0 2
Primary ciliary dyskinesia 22 0 2 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Developmental defect during embryogenesis 0 0 1 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 1 0 0 0 1
Infertility disorder 0 0 1 0 0 0 1
Kartagener syndrome 1 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Primary ciliary dyskinesia 3 1 0 0 0 0 0 1
See cases 0 0 0 1 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 360 95 515 2906 1188 0 5064
Ambry Genetics 32 13 1011 320 63 0 1439
GeneDx 11 14 160 129 347 0 661
PreventionGenetics, part of Exact Sciences 8 10 42 142 119 0 321
CeGaT Center for Human Genetics Tuebingen 2 6 30 65 11 0 114
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 18 34 61 0 0 0 113
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 1 14 17 69 0 107
Mayo Clinic Laboratories, Mayo Clinic 1 2 25 10 63 0 101
Fulgent Genetics, Fulgent Genetics 9 23 43 12 3 0 90
Breakthrough Genomics, Breakthrough Genomics 0 0 10 76 0 0 86
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 21 30 30 0 82
Illumina Laboratory Services, Illumina 0 1 74 2 1 0 78
Eurofins Ntd Llc (ga) 4 1 29 1 25 0 60
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 58 58
Revvity Omics, Revvity 5 4 31 0 0 0 40
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 7 19 2 0 0 37
Genome-Nilou Lab 0 0 0 0 26 0 26
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 2 18 0 24
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 18 0 0 0 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 17 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 6 7 3 0 0 18
Johns Hopkins Genomics, Johns Hopkins University 2 2 13 1 0 0 18
Baylor Genetics 3 0 14 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 0 2 9 2 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 5 0 0 0 12
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 8 0 0 10
Clinical Genetics Laboratory, Skane University Hospital Lund 5 2 3 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 2 5 3 0 0 0 10
Department of Human Genetics, Hannover Medical School 1 7 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 2 6 0 0 0 8
New York Genome Center 0 1 5 0 0 0 6
3billion 1 0 4 0 0 0 5
Biology Pathology Center, Lille University Hospital 5 0 0 0 0 0 5
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 2 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 2 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 3 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 2 0 1 2 0 5
NHS Central & South Genomic Laboratory Hub 4 1 0 0 0 0 5
OMIM 5 0 0 0 0 0 5
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 1 0 0 0 0 4
Dasa 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 4 0 0 0 4
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 3 0 1 0 0 0 4
MVZ Martinsried, Medicover Genetics 1 1 2 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 1 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
MAGI's Lab - Research, MAGI Group 0 0 3 0 0 0 3
Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University 0 3 0 0 0 0 3
Blueprint Genetics 0 0 2 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 0 2 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 1 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 2 0 0 0 2
The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of General Medicine, School of Medicine, International University of Health and Welfare (IUHW), IUHW Shioya Hospital 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pulmonary Medicine, Postgraduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 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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