ClinVar Miner

Variants in gene DNAH5

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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
153 49 454 409 165 1 1076

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 140 30 396 46 22 0 626
not provided 9 5 49 301 111 1 460
not specified 0 0 20 88 121 0 223
Ciliary dyskinesia, primary, 3 17 11 36 13 8 0 81
Inborn genetic diseases 4 1 1 0 0 0 6
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
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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 139 21 266 314 112 0 852
Illumina Clinical Services Laboratory,Illumina 2 2 155 27 21 0 207
PreventionGenetics,PreventionGenetics 0 0 0 75 108 0 183
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 6 18 16 64 0 105
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
OMIM 9 0 0 0 0 0 9
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
Ambry Genetics 4 1 1 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 5
Mayo Clinic Genetic Testing 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
GeneReviews 3 0 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
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
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
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
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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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