ClinVar Miner

Variants studied for primary ciliary dyskinesia 2

Included ClinVar conditions (1):
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
7 5 12 4 9 37

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNAAF3 6 4 12 3 2 27
DNAAF3, TNNI3 0 0 0 0 7 7
DNAAF3, LOC130065090 1 1 0 1 0 3

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 3 7
Revvity Omics, Revvity 0 3 4 0 0 7
Fulgent Genetics, Fulgent Genetics 2 0 3 1 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 5 5
OMIM 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 1

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