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
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 #
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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Institutes of Health independently verfies the submitted
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