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 |
110
|
35
|
760
|
993
|
71
|
7
|
1928
|
Gene and significance breakdown #
Total genes and gene combinations: 13
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CSF3R
|
28
|
9
|
292
|
192
|
25
|
0 |
541
|
VPS45
|
2
|
2
|
143
|
380
|
16
|
0 |
530
|
HAX1
|
35
|
15
|
110
|
206
|
6
|
0 |
360
|
G6PC3
|
22
|
7
|
124
|
147
|
9
|
5
|
304
|
JAGN1
|
5
|
0 |
68
|
35
|
11
|
0 |
115
|
G6PC3, LOC130060959
|
14
|
2
|
18
|
33
|
2
|
2
|
67
|
HAX1, LOC129931498
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
SMARCD2
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
ADAM15, ADAMTSL4, ADAR, ANP32E, ANXA9, APH1A, AQP10, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BGLAP, BNIPL, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, FALEC, FDPS, FLAD1, FLG, FLG2, GABPB2, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, IVL, JTB, KCNN3, KHDC4, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LMNA, LOC101928034, LORICRIN, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NES, NPR1, NTRK1, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PGLYRP3, PGLYRP4, PI4KB, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, PRCC, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RFX5, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SSR2, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRIM46, TSACC, TTC24, TUFT1, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADAR, AQP10, ATP8B2, C1orf43, CFAP141, CHRNB2, HAX1, IL6R, NUP210L, RPS27, SHE, TDRD10, TPM3, UBAP2L, UBE2Q1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ANP32E, APH1A, C1orf54, CA14, CIART, MRPS21, PLEKHO1, PRPF3, RPRD2, TARS2, VPS45
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BRK1, CIDEC, CRELD1, EMC3, FANCD2, FANCD2OS, IL17RC, IL17RE, JAGN1, PRRT3, VHL
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CIDEC, JAGN1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
81
|
25
|
698
|
980
|
63
|
0 |
1847
|
Natera, Inc.
|
4
|
1
|
80
|
19
|
5
|
0 |
109
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
37
|
4
|
12
|
0 |
54
|
OMIM
|
27
|
0 |
0 |
0 |
0 |
0 |
27
|
Fulgent Genetics, Fulgent Genetics
|
2
|
4
|
7
|
2
|
0 |
0 |
15
|
Baylor Genetics
|
3
|
0 |
10
|
0 |
0 |
0 |
13
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
11
|
1
|
0 |
0 |
12
|
Revvity Omics, Revvity
|
4
|
0 |
6
|
0 |
0 |
0 |
10
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
3
|
3
|
0 |
0 |
0 |
7
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
3billion
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Hauner Childrens Hospital, Department of Pediatrics, Dr. von Hauner Children's Hospital; Ludwig Maximilians University
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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