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 |
65
|
21
|
368
|
278
|
93
|
2
|
785
|
Gene and significance breakdown #
Total genes and gene combinations: 14
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
D2HGDH
|
16
|
7
|
137
|
117
|
43
|
1
|
293
|
L2HGDH
|
35
|
7
|
94
|
69
|
17
|
1
|
216
|
IDH2
|
2
|
2
|
82
|
62
|
21
|
0 |
165
|
DMAC2L, L2HGDH
|
1
|
1
|
14
|
9
|
3
|
0 |
27
|
D2HGDH, LOC129936031
|
1
|
1
|
12
|
6
|
3
|
0 |
23
|
IDH2, IDH2-DT
|
0 |
0 |
10
|
6
|
2
|
0 |
18
|
D2HGDH, LOC129936032
|
0 |
0 |
5
|
8
|
2
|
0 |
15
|
SLC25A1
|
7
|
3
|
4
|
0 |
0 |
0 |
12
|
D2HGDH, LOC129936033
|
0 |
0 |
7
|
1
|
2
|
0 |
10
|
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ABHD2, ACAN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, CIB1, CRTC3, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IQGAP1, KIF7, LINC00928, MAN2A2, MESP1, MESP2, MFGE8, MIR9-3, NGRN, PEX11A, PLIN1, POLG, PRC1, RCCD1, RHCG, RLBP1, SEMA4B, TICRR, UNC45A, VPS33B, WDR93, ZNF710, ZNF774
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ABHD2, ACAN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, CIB1, CRTC3, FANCI, GDPGP1, HAPLN3, IDH2, IQGAP1, KIF7, LINC00928, MESP1, MESP2, MFGE8, MIR9-3, NGRN, PEX11A, PLIN1, POLG, RHCG, RLBP1, SEMA4B, TICRR, WDR93, ZNF710, ZNF774
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
D2HGDH, LOC129389016
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
L2HGDH, LINC01588, LINC01599, LOC125024479, LOC125024480, LOC129390630, LOC130055566, LOC130055567, LOC130055568, LOC130055569, LOC130055570, LOC130055571, LOC130055572, LOC130055573, LOC130055574, LOC130055575, LOC130055576, LOC130055577, LOC130055578, LOC130055579, LOC130055580, LOC130055581, LOC130055582, LOC130055583, LOC130055584, LOC130055585, LOC130055586, LOC130055587, LOC130055588, LOC130055589, SOS2, VCPKMT
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
34
|
6
|
267
|
264
|
75
|
0 |
646
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
75
|
9
|
30
|
0 |
113
|
OMIM
|
22
|
0 |
0 |
0 |
0 |
0 |
22
|
Baylor Genetics
|
5
|
0 |
17
|
0 |
0 |
0 |
22
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
6
|
6
|
0 |
0 |
14
|
Genetic Services Laboratory, University of Chicago
|
6
|
2
|
2
|
1
|
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
Neuberg Centre For Genomic Medicine, NCGM
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Mendelics
|
0 |
1
|
0 |
0 |
3
|
0 |
4
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Breda Genetics srl
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnosticos Moleculares y Geneticos Departamento, Dimygen Laboratorio
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.