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 |
92
|
50
|
1380
|
1411
|
249
|
30
|
3073
|
Gene and significance breakdown #
Total genes and gene combinations: 24
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
INF2
|
20
|
10
|
453
|
667
|
114
|
1
|
1204
|
DNM2
|
18
|
7
|
476
|
454
|
68
|
1
|
979
|
YARS1
|
7
|
2
|
205
|
134
|
23
|
1
|
362
|
GNB4
|
3
|
5
|
109
|
94
|
13
|
1
|
220
|
MPZ
|
39
|
24
|
31
|
6
|
12
|
25
|
121
|
LOC126805688, YARS1
|
0 |
0 |
41
|
19
|
1
|
0 |
60
|
DNM2, LOC130063529
|
0 |
0 |
29
|
21
|
0 |
0 |
50
|
S100PBP, YARS1
|
0 |
0 |
17
|
6
|
11
|
0 |
34
|
GBF1
|
4
|
0 |
4
|
0 |
0 |
0 |
8
|
INF2, LOC130056630
|
0 |
0 |
3
|
3
|
1
|
0 |
7
|
DNM2, LOC130063529, MIR638
|
0 |
0 |
2
|
4
|
0 |
0 |
6
|
DNM2, MIR6793
|
0 |
0 |
0 |
3
|
2
|
0 |
5
|
LOC132088696, S100PBP, YARS1
|
0 |
0 |
1
|
0 |
4
|
0 |
5
|
MPZ, SDHC
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
SH3TC2
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
A3GALT2, ADPRS, AGO1, AGO3, AGO4, AIRIM, AK2, AKIRIN1, AKR1A1, ARMH1, ARTN, ATP6V0B, AZIN2, B4GALT2, BEST4, BMP8A, BMP8B, BTBD19, C1orf122, C1orf210, C1orf216, C1orf50, C1orf94, CAP1, CCDC17, CCDC24, CCDC30, CDC20, CDCA8, CFAP144, CFAP57, CITED4, CLDN19, CLSPN, COL8A2, COL9A2, CSF3R, CSMD2, CTPS1, DLGAP3, DMAP1, DNALI1, DPH2, DYNLT4, EBNA1BP2, EDN2, EIF2B3, ELOVL1, EPHA10, ERI3, ERMAP, EVA1B, EXO5, FHL3, FNDC5, FOXJ3, FOXO6, GJA4, GJA9, GJB3, GJB4, GJB5, GNL2, GPBP1L1, GRIK3, GUCA2A, GUCA2B, HECTD3, HEYL, HIVEP3, HMGB4, HPCA, HPCAL4, HPDL, HYI, INPP5B, IPO13, IPP, KCNQ4, KDM4A, KIAA0319L, KIAA0754, KIF2C, KLF17, LSM10, MACF1, MANEAL, MAP7D1, MAST2, MEAF6, MED8, MFSD2A, MIR30C1, MMACHC, MPL, MRPS15, MTF1, MUTYH, MYCBP, MYCL, NASP, NCDN, NDUFS5, NFYC, NT5C1A, OSCP1, OXCT2, P3H1, PABPC4, PHC2, PIK3R3, PLK3, POMGNT1, POU3F1, PPCS, PPIE, PPIH, PPT1, PRDX1, PSMB2, PTCH2, PTPRF, RHBDL2, RIMKLA, RIMS3, RLF, RNF19B, RNF220, RPS8, RRAGC, RSPO1, S100PBP, SCMH1, SF3A3, SFPQ, SH3D21, SLC2A1, SLC6A9, SLFNL1, SMAP2, SMIM12, SNIP1, ST3GAL3, STK40, SVBP, SZT2, TEKT2, TESK2, TFAP2E, THRAP3, TIE1, TMCO2, TMEM125, TMEM35B, TMEM53, TMEM54, TMEM69, TOE1, TRAPPC3, TRIM62, TRIT1, TSPAN1, UROD, UTP11, YARS1, YBX1, YRDC, ZC3H12A, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF362, ZNF684, ZNF691, ZSCAN20, ZSWIM5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADSS1, AHNAK2, AKT1, BRF1, BTBD6, CDCA4, CEP170B, CLBA1, GPR132, INF2, JAG2, NUDT14, PACS2, PLD4, SIVA1, ZBTB42
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADSS1, INF2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CLCN1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DNM2, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, MIR4748, MIR638
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HSPB1
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
IGHMBP2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
37
|
14
|
1199
|
1377
|
181
|
0 |
2808
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
80
|
10
|
95
|
0 |
182
|
Fulgent Genetics, Fulgent Genetics
|
8
|
3
|
80
|
73
|
5
|
0 |
169
|
OMIM
|
46
|
0 |
0 |
0 |
0 |
0 |
46
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
32
|
0 |
0 |
0 |
32
|
GeneReviews
|
3
|
0 |
0 |
0 |
0 |
22
|
25
|
MGZ Medical Genetics Center
|
0 |
4
|
5
|
0 |
0 |
0 |
9
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
4
|
2
|
0 |
8
|
Mendelics
|
3
|
5
|
0 |
0 |
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Baylor Genetics
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Athena Diagnostics Inc
|
4
|
0 |
0 |
0 |
1
|
0 |
5
|
3billion
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Genesis Genome Database
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Uffe Birk Jensen Lab, Aarhus University Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Genomics, Kyushu university
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genotek, Genotek Ltd.
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics Laboratory, Department of Biology, Semnan University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genetics Section, Sidra Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CMT Laboratory, Bogazici University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pangenia Genomics, Pangenia Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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