ClinVar Miner

Variants studied for Kartagener syndrome

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
12 18 61 10 8 22 124

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNAI1 8 14 58 9 8 2 92
DNAI1, LOC113839546 0 0 3 1 0 0 4
DNAH5 0 2 0 0 0 1 3
ODAD3 1 0 0 0 0 2 3
CCDC40 1 1 0 0 0 0 2
DNAAF1 0 0 0 0 0 2 2
DNAAF2 0 0 0 0 0 2 2
RSPH1 0 0 0 0 0 2 2
SPAG1 0 0 0 0 0 2 2
DNAAF11 0 0 0 0 0 1 1
DNAAF2, LOC130055542 0 0 0 0 0 1 1
DNAH1 0 0 0 0 0 1 1
DNAL1 0 0 0 0 0 1 1
DRC1 0 1 0 0 0 0 1
LOC126653391, RSPH1 0 0 0 0 0 1 1
LOC129997052, RSPH4A 0 0 0 0 0 1 1
LOC130000829, LOC130000830, POLR2K, SPAG1 1 0 0 0 0 0 1
ODAD1 0 0 0 0 0 1 1
ODAD2 0 0 0 0 0 1 1
RSPH4A 1 0 0 0 0 0 1
ZMYND10 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 43 4 0 0 48
GeneReviews 2 0 0 0 0 22 24
Fulgent Genetics, Fulgent Genetics 2 3 9 3 0 0 17
Counsyl 0 1 8 4 2 0 15
Genome-Nilou Lab 0 1 3 0 4 0 8
Revvity Omics, Revvity 2 3 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 0 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 2 0 4
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 1 3 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Department of Medical Genetics, Tarbiat Modares University 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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