ClinVar Miner

Variants studied for Primary ciliary dyskinesia 23

Coded as:
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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
42 14 181 202 36 468

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
ODAD2 39 14 168 184 33 432
LOC126860891, ODAD2 2 0 9 13 2 26
LOC132089773, ODAD2 1 0 4 5 1 10

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 37 10 178 200 32 457
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 5 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 2 2 2 6
OMIM 5 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Revvity Omics, Revvity 1 1 1 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 1
Biology Pathology Center, Lille University Hospital 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 1

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