ClinVar Miner

Variants studied for primary ciliary dyskinesia 15

Included ClinVar conditions (2):
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
16 15 130 19 41 1 211

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 not provided total
CCDC40 16 15 128 18 32 1 199
CCDC40, GAA 0 0 1 1 9 0 11
CCDC40, GAA, LOC130061897 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 1 98 10 31 0 142
Fulgent Genetics, Fulgent Genetics 4 3 17 2 1 0 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 7 10 0 17
Revvity Omics, Revvity 4 1 10 0 0 0 15
Genome-Nilou Lab 0 0 0 0 12 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 9 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 4 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 2 1 2 0 0 0 5
OMIM 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 2 1 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
3billion 1 0 1 0 0 0 2
The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Mendelics 0 0 0 1 0 0 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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