ClinVar Miner

Variants in gene DNAH11

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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 total
107 45 816 374 178 1331

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 90 28 702 244 144 1107
not specified 0 0 15 92 131 228
not provided 8 9 53 95 4 165
Ciliary dyskinesia, primary, 7 18 8 100 4 1 130
Inborn genetic diseases 0 0 2 0 0 2
Male infertility 0 0 2 0 0 2
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS 1 0 0 0 0 1
Cleft upper lip; Cognitive impairment; Median cleft lip; Bifid ribs; Asymmetry of the thorax; Periventricular leukomalacia; Cleft palate 0 0 1 0 0 1
Infertility 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 88 26 548 263 144 1069
Illumina Clinical Services Laboratory,Illumina 0 0 245 33 19 297
PreventionGenetics, PreventionGenetics 0 0 0 77 121 198
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 0 14 18 74 111
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 1 29 2 25 61
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 12 5 0 21
GeneDx 4 3 6 4 0 17
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 13 0 0 15
Baylor Genetics 1 0 12 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 8 0 10
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 8
OMIM 5 0 0 0 0 5
Biology Pathology Center,Lille University Hospital 5 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 0 3 1 0 5
MAGI's Lab - Research,MAGI Group 0 0 3 0 0 3
Ambry Genetics 0 0 2 0 0 2
GeneReviews 2 0 0 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1

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