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 |
73
|
67
|
834
|
1317
|
107
|
4
|
2351
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
KIF1A
|
71
|
65
|
803
|
1267
|
101
|
3
|
2260
|
KIF1A, LOC126806583
|
1
|
2
|
28
|
50
|
6
|
1
|
88
|
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
|
AGXT, KIF1A
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
61
|
29
|
786
|
1316
|
107
|
0 |
2298
|
Baylor Genetics
|
3
|
2
|
20
|
0 |
0 |
0 |
25
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
20
|
3
|
0 |
0 |
24
|
SIB Swiss Institute of Bioinformatics
|
2
|
13
|
1
|
0 |
0 |
0 |
16
|
CHU Sainte-Justine Research Center, University of Montreal
|
2
|
9
|
0 |
0 |
0 |
0 |
11
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
New York Genome Center
|
0 |
1
|
9
|
0 |
0 |
0 |
10
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
1
|
0 |
0 |
5
|
3billion
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Genetic Services Laboratory, University of Chicago
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Medicine, University of Pavia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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