ClinVar Miner

Variants studied for Primary ciliary dyskinesia 9

Coded as:
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 25 70 17 22 1 130

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNAI2 6 25 70 17 22 1 130

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 54 11 10 0 76
Fulgent Genetics, Fulgent Genetics 3 17 13 0 0 0 33
Genome-Nilou Lab 0 0 1 1 15 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 4 4 0 9
Counsyl 1 1 2 2 1 0 7
OMIM 4 0 0 0 0 0 4
Revvity Omics, Revvity 1 1 2 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
3billion 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1

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