ClinVar Miner

Variants in gene DNAH5

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Minimum submission review status: Collection method:
Minimum conflict level:
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
615 428 1409 3326 522 6 5547

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 592 190 992 3176 297 0 4816
Primary ciliary dyskinesia 3 56 232 440 65 94 2 850
not provided 25 13 125 115 263 3 534
not specified 0 0 20 87 121 0 222
Inborn genetic diseases 7 1 108 11 0 0 127
DNAH5-related condition 6 9 27 51 2 0 95
Infertility disorder 1 0 2 0 0 0 3
Kartagener syndrome 0 2 0 0 0 1 3
Heterotaxy 2 0 0 0 0 0 2
Clinodactyly of the 5th finger; Anomalous origin of coronary artery from the pulmonary artery; Cough 0 0 1 0 0 0 1
Male infertility 1 0 0 0 0 0 1
Primary Ciliary Dyskinesia (DNAH5-related) 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 575 129 527 3136 279 0 4646
Ambry Genetics 59 17 374 203 84 0 737
Natera, Inc. 38 6 397 67 74 0 582
GeneDx 14 9 68 77 260 0 428
Illumina Laboratory Services, Illumina 2 2 343 30 51 0 428
PreventionGenetics, part of Exact Sciences 6 9 27 125 108 0 275
Myriad Genetics, Inc. 1 182 0 0 0 0 183
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 6 18 16 65 0 107
Fulgent Genetics, Fulgent Genetics 13 11 38 14 1 0 77
Pars Genome Lab 0 0 1 4 62 0 67
Genome-Nilou Lab 1 2 34 7 21 0 65
CeGaT Center for Human Genetics Tuebingen 3 0 29 23 2 0 57
Counsyl 0 4 22 12 8 0 46
Eurofins Ntd Llc (ga) 2 0 28 7 8 0 45
Revvity Omics, Revvity 9 10 20 0 0 0 39
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 12 22 0 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 6 8 20 0 35
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 0 21 0 24
Johns Hopkins Genomics, Johns Hopkins University 4 2 12 2 0 0 20
Baylor Genetics 3 0 10 0 0 0 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 3 8 0 0 12
Genetics and Molecular Pathology, SA Pathology 1 1 9 0 0 0 11
OMIM 10 0 0 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 6 0 0 7
Biology Pathology Center, Lille University Hospital 5 2 0 0 0 0 7
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 4 2 1 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 1 0 0 7
New York Genome Center 1 0 5 0 0 0 6
3billion 2 1 3 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 4 0 0 0 6
Genomics England Pilot Project, Genomics England 2 4 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 0 4 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Centre for Genomic and Experimental Medicine, University of Edinburgh 5 0 0 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 3 1 1 0 0 0 5
DASA 4 1 0 0 0 0 5
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 2 2 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 1 0 0 0 4
MAGI's Lab - Research, MAGI Group 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 1 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 2 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 1 1 0 0 0 0 2
Mendelics 1 0 1 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
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
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 0 1 0 0 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 1 1 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
The Institute of Human Genetics, Galilee Medical Center 0 0 0 0 0 1 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 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
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
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
Human Genetics Section, Sidra Medicine 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
Pulmonary Medicine, Postgraduate Institute of Medical Education and Research 1 0 0 0 0 0 1

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