ClinVar Miner

Variants studied for autosomal dominant severe congenital neutropenia

Included ClinVar conditions (4):
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
40 17 366 234 49 1 693

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ELANE 38 17 219 126 16 0 410
GFI1 0 0 134 99 31 1 258
GFI1, LOC129930930 1 0 9 8 2 0 19
TCIRG1 1 0 1 0 0 0 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
CLPB 0 0 1 0 0 0 1
DIPK1A, EVI5, GFI1, RPL5, SNORD21 0 0 1 0 0 0 1
VPS13B 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 12 357 225 49 0 674
Fulgent Genetics, Fulgent Genetics 0 1 6 3 1 0 11
OMIM 7 0 0 0 0 0 7
Mendelics 1 0 0 4 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 0 0 5
Baylor Genetics 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 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1

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