ClinVar Miner

Variants studied for autosomal recessive cerebellar ataxia

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 affects not provided total
1429 1278 8311 4622 1352 1 92 16208

Gene and significance breakdown #

Total genes and gene combinations: 167
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
SYNE1 132 49 2304 1501 227 0 4 4030
SETX 45 27 490 457 342 0 4 1218
KIAA0586 83 35 586 407 56 0 2 1166
SACS 125 393 582 165 41 1 7 1144
CYP27A1 145 102 360 454 24 0 3 985
CSPP1 74 18 422 275 33 0 1 819
WWOX 51 11 301 251 46 0 1 656
CEP290 83 40 252 61 21 0 2 449
CEP41 13 5 228 113 24 0 0 372
TMEM237 25 12 203 113 23 0 0 357
TMEM231 30 9 158 126 16 0 0 333
AHI1 62 36 174 40 20 0 0 315
RPGRIP1L 18 35 191 40 17 0 1 299
SIL1 22 7 139 98 18 0 0 265
MTTP 20 59 114 28 38 0 5 246
CC2D2A 48 18 124 11 22 0 0 216
ARFGEF1, CSPP1 8 5 103 66 10 0 0 190
COQ8A 30 26 80 16 27 0 19 167
FLVCR1 6 5 94 9 47 0 1 158
NPHP1 12 39 86 16 4 0 0 156
MAF, WWOX 6 0 80 52 9 0 0 146
ATCAY 2 0 97 17 29 0 0 145
TTPA 16 38 70 6 10 0 15 133
VLDLR 11 11 84 11 15 0 5 133
TMEM138 13 3 70 42 6 0 0 126
TMEM67 23 14 44 23 2 0 0 105
TWNK 9 10 69 10 7 0 4 98
ANO10 15 9 59 5 11 0 0 95
MKS1 7 40 44 3 5 0 1 94
TMEM216 6 25 48 12 13 0 1 94
LOC126859837, SYNE1 4 2 44 34 3 0 0 86
TDP1 1 1 51 6 23 0 0 82
SPTBN2 5 6 36 6 9 0 2 64
FLVCR2 0 0 42 5 16 0 0 63
VPS13D 13 11 34 2 1 0 1 61
ESR1, SYNE1 0 0 36 15 8 0 0 57
ATP8A2 12 15 19 1 7 0 0 52
TPP1 12 4 20 7 7 0 2 50
WDR81 4 4 24 8 8 0 2 49
APOB 21 0 25 1 0 0 0 47
WDR73 10 11 19 6 3 0 0 47
LOC129997480, SYNE1 1 0 21 18 2 0 0 39
PNKP 8 4 21 4 2 0 0 37
SNX14 14 8 12 0 0 0 2 35
PCSK9 0 0 29 3 0 0 0 32
LOC126859838, SYNE1 2 0 14 16 0 0 0 31
GRID2 10 3 9 0 2 0 0 24
CWF19L1 9 10 3 0 1 0 0 22
RNF168 3 3 6 1 9 0 0 22
GRM1 5 0 4 7 5 0 0 21
PIK3R5 1 0 9 0 11 0 1 21
LOC130009366, SACS 0 5 12 7 1 0 0 20
RFC1 10 1 1 0 5 0 4 20
CPLANE1 8 11 0 0 0 0 0 19
LOC130059440, TMEM231 3 1 8 6 1 0 0 19
CEP290, RLIG1 3 6 7 0 0 0 0 16
LOC126859836, SYNE1 0 0 6 6 4 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 0 16
APTX 0 0 10 2 3 0 0 15
CTDP1 1 0 6 2 6 0 1 15
STUB1 9 4 4 0 0 0 0 15
JMJD8, STUB1 5 4 3 1 1 0 0 14
LOC126860782, SETX 0 0 4 7 5 0 0 14
RUBCN 2 1 11 0 0 0 0 14
SCYL1 8 3 3 1 0 0 0 14
PMPCA 4 1 6 0 2 0 0 13
LOC126862019, TDP1 0 0 9 1 3 0 0 12
SLC9A1 2 1 4 1 3 0 0 11
XRCC1 2 1 4 0 4 0 0 11
VWA3B 1 1 4 0 4 0 0 10
ANO10, LOC129936579 0 0 8 0 1 0 0 9
ARL13B 0 9 0 0 0 0 0 9
CA8 2 3 0 0 4 0 0 9
FXN 6 2 0 1 0 0 0 9
INPP5E 3 6 0 0 0 0 0 9
PRDX3 8 2 1 0 0 0 0 9
SACS, SGCG 0 0 0 8 1 0 0 9
CEP104 1 7 0 0 0 0 0 8
​intergenic 7 0 0 0 0 0 0 7
ATG7 6 1 0 0 1 0 0 7
TCTN2 2 5 0 0 0 0 0 7
VPS41 6 1 0 0 0 0 0 7
LOC126807124, MTTP 0 1 4 1 2 0 0 6
LOC126860792, PMPCA 2 0 3 1 0 0 0 6
NPHP3, NPHP3-ACAD11 1 5 0 0 0 0 0 6
B9D2 1 4 0 0 0 0 0 5
FLVCR1, LOC129932486 0 0 4 0 1 0 0 5
KIF14 0 5 0 0 0 0 0 5
LOC129994751, SIL1 0 0 4 1 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 0 5
PITRM1 3 0 2 0 0 0 0 5
TCTN1 0 5 0 0 0 0 0 5
TDP2 4 1 0 0 0 0 0 5
ZNF592 0 0 3 0 2 0 0 5
COA7 2 1 1 0 0 0 0 4
FXN, LOC130001862 2 0 1 0 1 0 0 4
LOC126860783, SETX 0 0 3 0 1 0 0 4
SYT14 1 0 1 1 2 0 0 4
CEP290, LOC129390514 1 0 1 1 0 0 0 3
COA7, LOC129388524 3 0 0 0 0 0 0 3
GDAP2 3 0 0 0 0 0 0 3
LOC126806306, NPHP1 1 2 0 0 0 0 0 3
LOC130001468, VLDLR 0 0 0 1 2 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 0 2
APOB, APOB3'MAR 0 0 2 0 0 0 0 2
B9D1 0 2 0 0 0 0 0 2
CHUK-DT, CWF19L1 0 0 2 0 0 0 0 2
COQ8A, LOC129932681 0 0 2 0 0 0 0 2
FXN, LOC108510657 2 0 0 0 0 0 0 2
IFT140 2 0 0 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 1 0 0 0 0 0 2
LOC129937586, NPHP3, NPHP3-ACAD11 0 2 0 0 0 0 0 2
LOC129995144, THG1L 1 1 1 0 0 0 0 2
LOC130003010, PMPCA 1 0 1 0 0 0 0 2
LOC130004408, TCTN3 0 2 0 0 0 0 0 2
TCTN3 2 0 0 0 0 0 0 2
THG1L 0 0 0 0 2 0 0 2
ALS2, MPP4, TMEM237 1 0 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 0 1
ATG5 1 0 0 0 0 0 0 1
ATG7, LOC126806603 1 0 0 0 0 0 0 1
ATXN8, ATXN8OS 1 0 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 0 1
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683 1 0 0 0 0 0 0 1
CEP104, LOC126805586 0 1 0 0 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 0 1
COQ8A, LOC129932682 0 0 0 1 1 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 0 1
ELF2 0 1 0 0 0 0 0 1
ENG 0 0 0 0 1 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 0 1
FLVCR1, LOC129932485 0 0 1 0 0 0 0 1
GJA3 1 0 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 0 1 1
IFT140, LOC105371046 1 0 0 0 0 0 0 1
IFT140, LOC126862260 1 0 0 0 0 0 0 1
JMJD8, RHBDL1, STUB1, WDR24 0 0 1 0 0 0 0 1
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 1
LOC113174982, TDP2 0 0 1 0 0 0 0 1
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR 1 0 0 0 0 0 0 1
LOC130001471, VLDLR 0 0 0 0 1 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 0 1
LRRCC1 0 1 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 0 1
MT-CYB 0 0 1 0 0 0 0 1
NPHP3 0 1 0 0 0 0 0 1
OFD1 1 0 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 0 1
PRKCG 0 0 1 0 0 0 0 1
RNU12 1 0 0 0 0 0 0 1
RPE65 0 0 0 0 1 0 0 1
RPGRIP1 0 0 1 0 0 0 0 1
SEPTIN11 0 0 1 0 0 0 0 1
SMAD6 0 0 1 0 0 0 0 1
SOS1 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 178
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 529 121 4793 3913 782 0 0 10138
Illumina Laboratory Services, Illumina 7 7 2207 291 472 0 0 2973
Fulgent Genetics, Fulgent Genetics 129 95 610 226 9 0 0 1069
Genome-Nilou Lab 39 40 243 169 301 0 0 792
Natera, Inc. 58 8 373 125 74 0 0 638
Baylor Genetics 144 260 177 0 0 0 0 581
Counsyl 16 270 127 11 2 0 0 426
OMIM 325 1 5 0 1 0 0 332
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 105 143 0 0 0 0 0 248
Revvity Omics, Revvity 42 39 141 0 0 0 0 222
UW Hindbrain Malformation Research Program, University of Washington 132 3 0 0 0 0 0 135
GeneReviews 58 0 0 0 4 0 62 124
Myriad Genetics, Inc. 10 111 1 0 0 0 0 122
3billion 24 29 17 0 0 0 0 70
New York Genome Center 5 3 61 0 0 0 0 69
Centre for Mendelian Genomics, University Medical Centre Ljubljana 18 12 21 1 0 0 0 52
Mendelics 17 14 5 5 10 0 0 51
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 9 39 0 0 51
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 7 14 29 0 0 0 0 50
Genomic Research Center, Shahid Beheshti University of Medical Sciences 15 5 28 1 0 0 0 49
Genetic Services Laboratory, University of Chicago 30 14 0 0 0 0 0 44
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 19 13 0 5 0 0 43
Institute of Human Genetics, University of Leipzig Medical Center 16 2 20 2 2 0 0 42
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 2 13 25 0 0 42
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 5 15 0 0 0 0 34
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 25 9 0 0 0 0 0 34
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 16 4 7 0 1 0 0 28
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 14 5 7 0 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 14 1 7 0 0 22
GenomeConnect, ClinGen 0 0 0 0 0 0 22 22
Paris Brain Institute, Inserm - ICM 22 0 0 0 0 0 0 22
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 9 7 0 0 0 0 19
MGZ Medical Genetics Center 4 8 6 0 0 0 0 18
Genomics England Pilot Project, Genomics England 6 9 1 0 0 0 0 16
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 4 2 0 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 11 2 0 0 0 13
Molecular Genetics, Royal Melbourne Hospital 1 3 7 0 2 0 0 13
Genetics and Molecular Pathology, SA Pathology 4 8 0 0 0 0 0 12
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 5 3 3 0 0 12
Medical Genetics Laboratory, Tarbiat Modares University 9 1 2 0 0 0 0 12
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 5 5 1 0 0 0 0 11
Centogene AG - the Rare Disease Company 5 2 3 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 5 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 4 0 0 0 0 9
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 3 5 1 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 2 4 3 0 0 0 0 9
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 5 3 0 0 0 0 9
Pars Genome Lab 1 0 2 5 1 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 3 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 6 0 0 8
Kids Neuroscience Centre, Sydney Children's Hospitals Network 3 4 1 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 0 0 0 0 7
UCLA Clinical Genomics Center, UCLA 0 7 0 0 0 0 0 7
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 2 5 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 3 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 5 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 5 2 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 2 1 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 3 1 0 0 0 0 7
Suma Genomics 3 1 3 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 3 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 5 1 0 0 0 0 0 6
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 4 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 2 0 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 1 0 0 0 0 0 6
Undiagnosed Diseases Network, NIH 3 2 1 0 0 0 0 6
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 3 0 0 0 0 6
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 0 1 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 3 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 5 0 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 1 0 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 4 0 1 0 0 0 0 5
Breda Genetics srl 2 0 3 0 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 0 5
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 5 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 0 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 1 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 3 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 4 0 0 0 0 0 0 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 2 0 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 3 0 0 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 3 0 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 0 4
DASA 3 1 0 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 4 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 3 0 0 0 0 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 2 0 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 2 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 1 0 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 1 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 0 2 0 0 3
TIDEX, University of British Columbia 2 0 1 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 1 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 0 0 0 1 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 1 1 1 0 0 0 3
Department of Biochemistry, Faculty of Medicine, University of Khartoum 2 1 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 1 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 2
King Laboratory, University of Washington 1 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 0 2
Neurogenetics Research; Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 2 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 0 2
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 2 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
Institute of Bioinformatics 1 1 0 0 0 0 0 2
Codex Genetics Limited 1 1 0 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 0 2
CMT Laboratory, Bogazici University 1 0 1 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 2
Movement Disorders Program, Boston Children's Hospital 0 1 1 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 0 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 1 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
University of Uludag Hospital, Genetic Diseases Diagnostic Center, University of Uludag 0 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 1
Institute of Genomic Medicine, Catholic University 0 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Fundacion Diagnosis 0 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 0 1

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