ClinVar Miner

Variants in gene DNAH5

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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
713 670 2131 3522 530 66 6572

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 675 361 1764 3377 304 0 5808
Primary ciliary dyskinesia 3 93 351 475 75 96 3 1033
not provided 42 23 218 167 272 3 703
not specified 0 0 41 90 124 0 248
DNAH5-related disorder 14 14 38 54 2 0 122
Respiratory ciliopathies including non-CF bronchiectasis 11 0 3 0 0 0 14
Uterine corpus endometrial carcinoma 0 0 0 0 0 14 14
Lung cancer 0 0 0 0 0 7 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 7 7
Familial cancer of breast 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 6 6
Hepatocellular carcinoma 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Inborn genetic diseases 3 0 0 0 0 0 3
Infertility disorder 1 0 2 0 0 0 3
Kartagener syndrome 0 2 0 0 0 1 3
Melanoma 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Heterotaxy 2 0 0 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Primary ciliary dyskinesia 7 1 1 0 0 0 0 2
Situs inversus 0 0 2 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Glycine encephalopathy 1 1 0 0 0 0 0 1
Male infertility 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Primary Ciliary Dyskinesia (DNAH5-related) 0 1 0 0 0 0 1
See cases 0 0 0 1 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 107
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 648 131 627 3295 279 0 4980
Ambry Genetics 65 20 775 310 93 0 1263
Natera, Inc. 84 191 697 69 74 0 1115
GeneDx 25 18 124 78 260 0 505
Illumina Laboratory Services, Illumina 2 2 326 29 50 0 409
PreventionGenetics, part of Exact Sciences 14 14 38 128 108 0 302
Breakthrough Genomics, Breakthrough Genomics 0 0 18 59 129 0 206
Fulgent Genetics, Fulgent Genetics 29 104 47 14 1 0 195
Myriad Genetics, Inc. 4 191 0 0 0 0 195
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 6 18 16 65 0 107
Mayo Clinic Laboratories, Mayo Clinic 6 1 31 10 46 0 94
CeGaT Center for Human Genetics Tuebingen 5 1 41 40 4 0 91
Pars Genome Lab 0 0 1 4 62 0 67
Genome-Nilou Lab 1 2 34 7 21 0 65
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 17 19 25 0 64
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 62 62
Revvity Omics, Revvity 9 16 21 1 0 0 47
Counsyl 0 4 22 12 8 0 46
Eurofins Ntd Llc (ga) 2 0 28 7 8 0 45
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 12 22 0 0 0 36
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 5 4 25 0 35
Yale Center for Mendelian Genomics, Yale University 0 34 0 0 0 0 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 6 22 2 0 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 0 21 0 24
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 4 13 2 0 0 23
Johns Hopkins Genomics, Johns Hopkins University 5 4 12 2 0 0 23
NHS Central & South Genomic Laboratory Hub 11 1 3 0 0 0 14
3billion 6 1 6 0 0 0 13
Baylor Genetics 3 0 10 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 10 1 0 0 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 3 8 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 2 2 8 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 4 0 0 0 12
Clinical Genetics and Genomics, Karolinska University Hospital 8 3 0 0 0 0 11
Department of Human Genetics, Hannover Medical School 3 1 7 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 1 1 9 0 0 0 11
OMIM 10 0 0 0 0 0 10
Clinical Genetics Laboratory, Skane University Hospital Lund 5 1 3 0 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 4 0 0 2 3 0 9
New York Genome Center 1 2 5 0 0 0 8
Biology Pathology Center, Lille University Hospital 5 2 0 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 6 0 0 7
Dasa 6 1 0 0 0 0 7
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 4 2 1 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 3 0 0 0 7
Variantyx, Inc. 3 4 0 0 0 0 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 2 0 0 0 0 6
Genomics England Pilot Project, Genomics England 2 4 0 0 0 0 6
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar University of Porto 1 3 2 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 3 1 1 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 5 0 0 0 0 0 5
Centre for Genomic and Experimental Medicine, University of Edinburgh 5 0 0 0 0 0 5
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 0 0 4
MAGI's Lab - Research, MAGI Group 2 0 2 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 2 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 1 0 0 1 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
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 1 0 2
Genos 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 1 1 0 0 0 0 2
Mendelics 1 0 1 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
OLLIN Analises Genomicas, OLLIN 2 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 1 1 0 0 0 0 2
Shengli Clinical Medical College Of Fujian Medical University, Fujian Provincial Hospital 2 0 0 0 0 0 2
The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association 1 1 0 0 0 0 2
Arcensus 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Blueprint Genetics 0 1 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 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
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 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Pulmonary Medicine, Postgraduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
The Institute of Human Genetics, Galilee Medical Center 0 0 0 0 0 1 1

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