ClinVar Miner

Variants studied for Ciliary dyskinesia, primary, 40

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 total
14 24 48 12 14 110

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNAH9 13 21 43 9 11 95
DNAH9, LOC101928350 0 1 3 3 2 9
DNAH9, LOC126862505 0 0 1 0 1 2
DNAH9, LOC126862506 0 1 1 0 0 2
E2F6 0 1 0 0 0 1
SRP54 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 5 7 12 1 25
Revvity Omics, Revvity 2 3 10 0 0 15
Genome-Nilou Lab 0 0 0 0 13 13
Department of Pathology and Laboratory Medicine, Sinai Health System 1 6 4 0 0 11
OMIM 8 0 0 0 0 8
Baylor Genetics 0 2 6 0 0 8
3billion 1 2 4 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 2 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
Genetics and Molecular Pathology, SA Pathology 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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 1
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
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
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 1

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