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 |
104
|
44
|
107
|
122
|
39
|
5
|
392
|
Gene and significance breakdown #
Total genes and gene combinations: 13
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
EYA1
|
81
|
21
|
84
|
85
|
35
|
1
|
286
|
TFAP2A
|
8
|
10
|
6
|
7
|
1
|
0 |
31
|
LOC121740638, TFAP2A
|
9
|
11
|
3
|
5
|
0 |
0 |
26
|
SIX5
|
0 |
0 |
7
|
9
|
3
|
1
|
19
|
LOC107075317, SIX5
|
2
|
0 |
4
|
4
|
0 |
2
|
9
|
DM1, LOC107075317, SIX5
|
1
|
0 |
1
|
6
|
0 |
1
|
8
|
SIX1
|
1
|
0 |
0 |
5
|
0 |
0 |
6
|
DM1, LOC107075317, LOC129929037, SIX5
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
CLRN1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581, LOC130000582
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MIR9718, SIX1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TJP2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
71
|
10
|
62
|
75
|
31
|
0 |
249
|
Fulgent Genetics, Fulgent Genetics
|
4
|
3
|
29
|
52
|
1
|
0 |
89
|
OMIM
|
20
|
0 |
1
|
0 |
0 |
0 |
21
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
6
|
7
|
0 |
0 |
0 |
0 |
13
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
Revvity Omics, Revvity
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Autoinflammatory diseases unit, CHU de Montpellier
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Mendelics
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genetics Department, University Hospital of Toulouse
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Nephrology (Iijima Lab), Kobe University Graduate School of Medicine
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Biology Laboratory, Fundació Puigvert
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.