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
122 42 402 203 146 1 790

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 107 23 345 119 93 0 635
not specified 0 0 19 88 120 0 221
Ciliary dyskinesia, primary, 3 17 11 35 13 8 0 81
not provided 8 5 48 6 0 1 68
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 106 15 211 92 72 0 496
Illumina Clinical Services Laboratory,Illumina 2 2 155 27 21 0 207
PreventionGenetics 0 0 0 75 108 0 183
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 17 16 62 0 100
Counsyl 0 4 22 13 8 0 47
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 28 7 8 0 46
GeneDx 5 4 17 1 0 0 27
OMIM 9 0 0 0 0 0 9
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 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
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

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