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 |
459
|
75
|
1658
|
1430
|
391
|
2
|
3697
|
Gene and significance breakdown #
Total genes and gene combinations: 11
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
TSC1
|
455
|
75
|
1648
|
1430
|
391
|
2
|
3683
|
TSC2
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
CEL, GFI1B, GTF3C5, TSC1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
LOC130002883, LOC130002884, TSC1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ABO, ADAMTS13, ADAMTSL2, BRD3, CACFD1, CEL, DBH, FAM163B, GBGT1, GFI1B, GTF3C5, MED22, MYMK, OBP2B, RALGDS, REXO4, RNU6ATAC, RPL7A, SARDH, SLC2A6, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, VAV2, WDR5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ABO, ADAMTS13, ADAMTSL2, CACFD1, CEL, DBH, FAM163B, GBGT1, GFI1B, GTF3C5, MED22, MYMK, OBP2B, RALGDS, REXO4, RPL7A, SARDH, SLC2A6, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, VAV2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AK8, GFI1B, GTF3C4, LOC111365185, LOC113839536, LOC116216102, LOC130002881, LOC130002882, LOC130002883, LOC130002884, MIR548AW, SPACA9, TSC1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AK8, SPACA9, TSC1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GFI1B, MIR548AW, TSC1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GFI1B, TSC1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
394
|
38
|
1466
|
1315
|
256
|
0 |
3469
|
Genome-Nilou Lab
|
58
|
3
|
154
|
155
|
215
|
0 |
585
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
106
|
31
|
64
|
0 |
201
|
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University
|
46
|
2
|
4
|
6
|
2
|
0 |
60
|
Color Diagnostics, LLC DBA Color Health
|
2
|
0 |
7
|
10
|
25
|
0 |
44
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
0 |
8
|
22
|
0 |
31
|
Athena Diagnostics Inc
|
19
|
0 |
0 |
0 |
6
|
0 |
25
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
7
|
7
|
1
|
1
|
1
|
0 |
17
|
Mendelics
|
10
|
0 |
3
|
2
|
2
|
0 |
17
|
Myriad Genetics, Inc.
|
9
|
2
|
0 |
2
|
2
|
0 |
15
|
MGZ Medical Genetics Center
|
6
|
2
|
3
|
0 |
0 |
0 |
11
|
Institute of Human Genetics, University of Leipzig Medical Center
|
6
|
5
|
0 |
0 |
0 |
0 |
11
|
Baylor Genetics
|
3
|
1
|
5
|
0 |
0 |
0 |
9
|
OMIM
|
6
|
0 |
1
|
0 |
0 |
0 |
7
|
3billion
|
3
|
4
|
0 |
0 |
0 |
0 |
7
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
4
|
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Molecular Biology Laboratory, Fundació Puigvert
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Medical Genetics, University of Pecs
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HSP Biomedical Diagnostics Department, Hospital San Pedro
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, College of Basic Medicine, Army Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cavalleri Lab, Royal College of Surgeons in Ireland
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
deCODE genetics, Amgen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Medical Genetics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Arcensus
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Developmental Neurology, Medical University of Gdańsk
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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