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 |
311
|
140
|
1860
|
2678
|
634
|
15
|
5575
|
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 |
COL6A3
|
77
|
34
|
976
|
1246
|
246
|
2
|
2560
|
COL6A2
|
126
|
59
|
551
|
726
|
112
|
4
|
1561
|
COL6A1
|
94
|
42
|
298
|
666
|
262
|
9
|
1347
|
COL6A3, LOC126806573
|
1
|
0 |
19
|
32
|
5
|
0 |
57
|
COL6A3, LOC122889011
|
10
|
5
|
10
|
8
|
1
|
0 |
33
|
COL6A2, FTCD
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
COL6A1, COL6A2, COL6A2-DT, LOC121853033, LOC130066866
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
ACKR3, COL6A3, COPS8
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, 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 |
0 |
0 |
0 |
0 |
1
|
ACKR3, COL6A3, COPS8, COPS8-DT, LOC110121230, LOC112840913, LOC122889010, LOC122889011, LOC126806571, LOC126806572, LOC126806573, LOC129935916, LOC129935917, LOC93463
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CLCN5
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
COL6A2, LOC121853033
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL6A3, MLPH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
297
|
97
|
1805
|
2677
|
622
|
0 |
5498
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
35
|
0 |
35
|
Mendelics
|
8
|
5
|
5
|
1
|
9
|
0 |
28
|
MGZ Medical Genetics Center
|
1
|
6
|
10
|
0 |
0 |
0 |
17
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
4
|
6
|
0 |
0 |
0 |
11
|
Baylor Genetics
|
1
|
1
|
8
|
0 |
0 |
0 |
10
|
3billion
|
4
|
3
|
3
|
0 |
0 |
0 |
10
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
2
|
4
|
0 |
0 |
0 |
7
|
Broad Institute Rare Disease Group, Broad Institute
|
2
|
1
|
1
|
0 |
2
|
0 |
6
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
3
|
2
|
0 |
0 |
0 |
6
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
1
|
0 |
5
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre de Genetique Humaine, Institut de Pathologie et de Genetique
|
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
|
Medical Molecular Genetics Department, National Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Biology Laboratory, Virgen Macarena University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
1
|
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
|
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.