ClinVar Miner

Variants studied for ciliary dyskinesia, primary, 40

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
12 9 33 12 14 79

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNAH9 12 8 31 9 11 70
DNAH9, LOC101928350 0 0 2 3 2 7
DNAH9, LOC126862505 0 0 0 0 1 1
DNAH9, LOC126862506 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Revvity Omics, Revvity 2 3 10 0 0 15
Fulgent Genetics, Fulgent Genetics 0 1 1 12 1 15
Genome-Nilou Lab 0 0 0 0 13 13
OMIM 8 0 0 0 0 8
Baylor Genetics 0 2 6 0 0 8
Genetics and Molecular Pathology, SA Pathology 0 1 2 0 0 3
3billion 0 1 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 1

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