ClinVar Miner

Variants studied for Primary ciliary dyskinesia 5

Coded as:
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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
13 32 57 3 5 108

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HYDIN 12 32 57 3 5 107
HYDIN, LOC121587554 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 6 14 5 0 0 25
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 10 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 0 3 9 0 0 12
Baylor Genetics 0 0 7 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 5 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 0 4 1 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 0 5 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
OMIM 3 0 0 0 0 3
Revvity Omics, Revvity 2 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 1 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 1 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Biology Pathology Center, Lille University Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1
3billion 0 1 0 0 0 1
DASA 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 1

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