ClinVar Miner

Variants in gene combination CDCA7L, DNAH11

See also:
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
6 5 38 18 7 1 66

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 5 3 34 16 6 0 59
Ciliary dyskinesia, primary, 7 1 1 4 0 0 0 6
not specified 0 0 0 3 4 0 6
not provided 0 1 1 2 1 0 5
Normal pregnancy 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 3 19 10 6 0 43
Illumina Clinical Services Laboratory,Illumina 0 0 18 6 1 0 25
PreventionGenetics,PreventionGenetics 0 0 0 3 3 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1

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