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
64 23 503 330 179 934

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 51 12 456 73 22 611
not provided 8 8 50 191 141 376
not specified 0 0 14 92 131 227
Ciliary dyskinesia, primary, 7 11 3 12 0 0 25
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

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 49 12 303 222 145 731
Illumina Clinical Services Laboratory,Illumina 0 0 171 30 18 219
PreventionGenetics,PreventionGenetics 0 0 0 77 121 198
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 0 13 18 73 109
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 29 2 25 61
GeneDx 4 3 6 4 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 10 3 0 17
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
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
Undiagnosed Diseases Network,NIH 1 1 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 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
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 1

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