ClinVar Miner

Variants in gene combination CDCA7L, 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
27 10 54 59 11 143

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 25 4 44 58 9 130
Primary ciliary dyskinesia 7 2 4 5 3 1 15
not provided 0 1 4 5 6 15
not specified 0 0 1 3 4 7
DNAH11-related condition 0 0 1 3 0 4
Inborn genetic diseases 0 0 2 0 0 2
Primary ciliary dyskinesia; Situs inversus 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 4 28 50 8 115
Illumina Laboratory Services, Illumina 0 0 18 6 1 25
Ambry Genetics 0 0 9 8 1 18
PreventionGenetics, part of Exact Sciences 0 0 1 6 3 10
GeneDx 0 0 2 0 6 8
CeGaT Center for Human Genetics Tuebingen 0 1 1 4 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 1

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