ClinVar Miner

Variants studied for ELANE-related neutropenia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
54 42 288 171 16 6 555

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ELANE 51 42 285 170 16 5 548
TCIRG1 1 0 2 0 0 0 3
CFD, ELANE 2 0 0 0 0 1 2
ABCA7, ABHD17A, ADAMTSL5, ADAT3, AP3D1, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BTBD2, C19orf25, CBARP, CFD, CIRBP, CNN2, CSNK1G2, DAZAP1, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, HCN2, IZUMO4, KISS1R, KLF16, MBD3, MED16, MEX3D, MIDN, MIR1909, MISP, MKNK2, MOB3A, NDUFS7, ONECUT3, PALM, PCSK4, PLK5, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RPS15, SBNO2, SCAMP4, STK11, TCF3, TMEM259, UQCR11, WDR18 0 0 1 0 0 0 1
VPS13B 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 38 14 271 168 16 0 507
Laboratory of Immunopathology and Genetics, Medical Laboratory of Pediatric Oncology and Hematology, Central Clinical Hospital of the Medical University of Lodz 14 14 0 0 0 0 28
Fulgent Genetics, Fulgent Genetics 0 1 11 0 0 0 12
OMIM 11 0 0 0 0 0 11
Mendelics 4 1 1 0 1 0 7
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 4 2 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 0 0 4
3billion 0 0 3 0 0 0 3
Baylor Genetics 2 0 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 1 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 0 3
Genomics Facility, Ludwig-Maximilians-Universität München 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Alergia E Inmunologia Clinica Pediatrica, Hospital Civil Nuevo Dr. Juan I. Menchaca 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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