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
276 95 851 699 169 1 1837

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 258 72 550 555 114 0 1466
Ciliary dyskinesia, primary, 3 29 15 360 40 50 0 477
not specified 0 0 20 88 121 0 223
not provided 11 6 56 84 5 1 163
Inborn genetic diseases 7 1 1 0 0 0 9
Infertility 1 0 2 0 0 0 3
Kartagener syndrome 1 2 0 0 0 0 3
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
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 255 55 447 599 112 0 1468
Illumina Clinical Services Laboratory,Illumina 2 2 345 32 51 0 432
Natera, Inc. 17 0 160 37 67 0 281
PreventionGenetics, PreventionGenetics 0 0 0 75 108 0 183
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 6 18 16 65 0 107
Counsyl 0 4 22 13 8 0 47
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 28 7 8 0 46
GeneDx 7 4 17 1 0 0 29
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 10 13 0 0 0 24
Baylor Genetics 3 0 10 0 0 0 13
OMIM 9 0 0 0 0 0 9
Ambry Genetics 7 1 1 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 0 0 0 8
Fulgent Genetics,Fulgent Genetics 3 1 3 0 0 0 7
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 6 1 0 0 7
Centre for Genomic and Experimental Medicine,University of Edinburgh 5 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 4
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
MAGI's Lab - Research,MAGI Group 2 0 2 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Mendelics 0 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
ISCA site 14 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
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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1

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