ClinVar Miner

Variants in gene DNAAF3

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 total
15 4 80 63 10 165

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 13 4 72 45 7 139
not provided 1 0 5 26 1 33
not specified 0 0 3 6 4 13
Ciliary dyskinesia, primary, 2 5 0 2 0 0 7
Kartagener syndrome 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 4 69 54 7 146
PreventionGenetics,PreventionGenetics 0 0 0 6 4 10
GeneDx 0 0 1 5 1 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 0 1 6
Illumina Clinical Services Laboratory,Illumina 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
GeneReviews 3 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1

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