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 |
219
|
85
|
1112
|
1303
|
150
|
10
|
2753
|
Gene and significance breakdown #
Total genes and gene combinations: 19
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PLEKHG5
|
48
|
17
|
454
|
587
|
61
|
5
|
1140
|
IGHMBP2
|
114
|
46
|
434
|
519
|
56
|
4
|
1094
|
DNAJB2
|
10
|
10
|
109
|
96
|
7
|
1
|
227
|
SIGMAR1
|
6
|
3
|
55
|
56
|
7
|
0 |
126
|
IGHMBP2, LOC126861245
|
3
|
4
|
16
|
24
|
5
|
0 |
49
|
LOC130001681, SIGMAR1
|
6
|
0 |
15
|
8
|
3
|
0 |
32
|
LOC126805598, PLEKHG5
|
1
|
0 |
12
|
13
|
5
|
0 |
29
|
SORD
|
7
|
2
|
10
|
0 |
3
|
0 |
19
|
VWA1
|
5
|
3
|
1
|
0 |
1
|
0 |
10
|
VRK1
|
7
|
0 |
1
|
0 |
0 |
0 |
8
|
COQ7
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
REEP1
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
COQ7, COQ7-DT, LOC130058587
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
DNAJB2, LOC129935648
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
PLEKHG5, TNFRSF25
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL6A3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DES, DES-LCR, DNAJB2, DNPEP, LOC120977025, LOC126806517, LOC129935649, LOC129935650, LOC129935651, LOC129935652, LOC129935653, LOC129935654, MIR153-1, PTPRN, RESP18
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
172
|
40
|
955
|
1279
|
119
|
0 |
2565
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
165
|
30
|
66
|
0 |
262
|
OMIM
|
42
|
0 |
0 |
0 |
0 |
0 |
42
|
Fulgent Genetics, Fulgent Genetics
|
2
|
3
|
6
|
4
|
0 |
0 |
15
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
13
|
0 |
14
|
MGZ Medical Genetics Center
|
2
|
3
|
4
|
0 |
0 |
0 |
9
|
Mendelics
|
6
|
2
|
0 |
0 |
1
|
0 |
9
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Baylor Genetics
|
5
|
1
|
1
|
0 |
0 |
0 |
7
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
2
|
1
|
0 |
6
|
Revvity Omics, Revvity
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
4
|
0 |
0 |
0 |
0 |
6
|
Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants
|
0 |
3
|
3
|
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, Cologne University
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
1
|
0 |
1
|
1
|
0 |
3
|
Department of Medical Genetics, Oslo University Hospital
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
1
|
0 |
1
|
0 |
3
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
3billion
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Suma Genomics
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Immunology and Genetics Kaiserslautern
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Paisan-Ruiz Laboratory, Icahn School of Medicine at Mount Sinai
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Children's Hospital of Soochow University, Soochow University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Neurology, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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