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 |
58
|
17
|
347
|
245
|
92
|
2
|
723
|
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
|
15
|
4
|
134
|
103
|
43
|
1
|
275
|
L2HGDH
|
29
|
7
|
91
|
57
|
16
|
1
|
195
|
IDH2
|
2
|
2
|
67
|
59
|
21
|
0 |
147
|
DMAC2L, L2HGDH
|
1
|
1
|
14
|
8
|
3
|
0 |
26
|
D2HGDH, LOC129936031
|
1
|
0 |
13
|
6
|
3
|
0 |
23
|
IDH2, IDH2-DT
|
0 |
0 |
9
|
5
|
2
|
0 |
16
|
D2HGDH, LOC129936032
|
0 |
0 |
5
|
6
|
2
|
0 |
13
|
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
|
D2HGDH, LOC129389016
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GJB1
|
0 |
0 |
1
|
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 |
Invitae
|
27
|
5
|
251
|
231
|
74
|
0 |
588
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
78
|
9
|
30
|
0 |
116
|
OMIM
|
22
|
0 |
0 |
0 |
0 |
0 |
22
|
Baylor Genetics
|
4
|
0 |
17
|
0 |
0 |
0 |
21
|
Genetic Services Laboratory, University of Chicago
|
6
|
2
|
2
|
1
|
0 |
0 |
11
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
3
|
6
|
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Mendelics
|
0 |
1
|
0 |
0 |
3
|
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
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
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
1
|
2
|
0 |
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
|
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
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
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
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
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
|
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