ClinVar Miner

Variants studied for primary ciliary dyskinesia 11

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 not provided total
14 1 49 9 8 4 78

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
RSPH4A 13 1 46 8 8 4 73
LOC129997052, RSPH4A 1 0 1 1 0 0 3
LOC129997051, RSPH4A 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 39 8 7 0 54
Fulgent Genetics, Fulgent Genetics 5 0 2 0 0 0 7
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 1 0 4 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 1 0 4
GeneReviews 0 0 0 0 0 3 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 0 3
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1

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