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
53 15 432 232 172 755

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ciliary dyskinesia 41 9 394 145 128 642
not specified 0 0 14 93 130 226
not provided 8 6 40 11 0 63
Ciliary dyskinesia, primary, 7 9 0 12 0 0 21
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: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 9 240 115 110 513
Illumina Clinical Services Laboratory,Illumina 0 0 171 30 18 219
PreventionGenetics 0 0 0 77 121 198
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 0 12 18 69 104
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 29 2 25 61
GeneDx 4 2 6 2 0 14
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 8 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 3 3 0 9
Fulgent Genetics 1 0 7 0 0 8
OMIM 5 0 0 0 0 5
GeneReviews 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 0 1 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1

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