ClinVar Miner

Variants studied for Neutropenia, severe congenital, 1, autosomal dominant

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
16 5 10 1 0 32

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 total
ELANE 13 5 8 0 26
TCIRG1 1 0 2 0 3
CFD, ELANE 2 0 0 0 2
VPS13B 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 6 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 3
Genomics Facility, Ludwig-Maximilians-Universität München 3 0 0 0 3
Baylor Genetics 1 0 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Mendelics 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 1
3billion 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 1

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