ClinVar Miner

Variants studied for Leber congenital amaurosis

Included ClinVar conditions (50):
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 not provided total
1306 720 3800 3009 367 29 8675

Gene and significance breakdown #

Total genes and gene combinations: 90
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRB1 327 224 514 733 37 2 1692
GUCY2D 132 87 458 609 37 1 1293
RPGRIP1 123 38 452 284 38 0 879
RPE65 176 93 258 368 26 0 832
CEP290 92 44 414 84 25 3 625
AIPL1 53 17 243 197 39 7 507
CRX 62 12 231 103 45 1 438
SPATA7 40 16 202 108 24 4 377
GPHN, RDH12 63 42 106 163 5 2 350
GDF6 4 0 159 133 24 0 315
LCA5 31 33 152 23 11 5 239
RD3 10 0 165 49 19 1 236
NMNAT1 50 28 67 49 5 1 185
GPHN, RDH12, ZFYVE26 34 23 55 81 3 1 175
LRAT 6 10 83 7 6 0 108
TULP1 35 20 48 2 7 0 108
IMPDH1 2 1 58 7 4 0 70
GIGYF2, KCNJ13 7 2 49 3 3 0 63
CEP290, RLIG1 4 6 17 1 0 0 26
LOC130056226, SPATA7 3 2 11 3 2 0 19
ALMS1 7 3 0 0 0 0 10
IMPDH1, LOC129999258 0 0 8 0 1 0 9
TSTD3, USP45 1 0 2 0 6 0 9
TUBB4B 2 2 5 0 0 0 7
USH2A 0 1 6 0 0 0 7
CEP290, LOC129390514 2 1 3 1 0 0 6
IQCB1 5 2 0 0 0 0 6
LOC126805613, NMNAT1 1 4 0 0 0 0 5
IMPDH1, LOC107986845 0 0 3 1 0 0 4
PROM1 4 0 0 0 0 0 4
ABCA4 3 0 0 0 0 0 3
CNGB3 3 0 0 0 0 0 3
RDH12 0 1 2 0 0 0 3
RP2 2 1 0 0 0 0 3
ADAMTS18, LOC126862407 0 0 2 0 0 0 2
AHI1 2 0 0 0 0 0 2
NPHP4 0 0 2 0 0 0 2
​intergenic 0 1 0 0 0 0 1
ABCA4, LOC126805793 0 1 0 0 0 0 1
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 1
AIPL1, PIMREG, PITPNM3 0 0 1 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, GUCY2D, HES7, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1 0 0 1 0 0 0 1
ARG2, ATP6V1D, EIF2S1, FUT8, GARIN2, GPHN, PALS1, PIGH, PLEK2, PLEKHH1, RAD51B, RDH11, RDH12, TMEM229B, VTI1B, ZFYVE26 0 0 1 0 0 0 1
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 1
CC2D2A 1 0 0 0 0 0 1
CDHR1 1 0 0 0 0 0 1
CFAP410 1 0 0 0 0 0 1
CFAP418, GDF6, MTERF3, NDUFAF6, PLEKHF2, PTDSS1, UQCRB 0 0 1 0 0 0 1
CHD8, HNRNPC, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 0 0 1 0 0 0 1
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 1 0 0 0 0 0 1
CLUAP1 1 0 0 0 0 0 1
COPB2-DT, RBP1 0 0 1 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 1
CRX, TPRX2 0 0 1 0 0 0 1
DEPDC1, RPE65 1 0 0 0 0 0 1
DTHD1 0 0 1 0 0 0 1
EML5, GALC, GPR65, KCNK10, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1
FSCN2 0 0 1 0 0 0 1
GRM6 1 0 0 0 0 0 1
GRM6, ZNF454 1 0 0 0 0 0 1
GUCA1B 0 0 1 0 0 0 1
IFT140 0 0 1 0 0 0 1
IFT140, LOC126862260 0 0 1 0 0 0 1
INPP5E 0 1 0 0 0 0 1
LCA5, LOC129996749, SH3BGRL2 1 0 0 0 0 0 1
LOC122152296, USH2A 0 0 1 0 0 0 1
LOC126806932, PCYT1A 1 0 0 0 0 0 1
LRP5 0 0 1 0 0 0 1
MKS1 0 1 0 0 0 0 1
NPHP1 0 0 1 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 1
NR2E3 1 0 0 0 0 0 1
OTX2 1 0 0 0 0 0 1
PANK2 0 0 1 0 0 0 1
PDE6A 1 0 0 0 0 0 1
PDE6B 1 0 0 0 0 0 1
PEX1 0 0 0 0 0 1 1
PRPF31 0 0 1 0 0 0 1
PRPF8 0 0 1 0 0 0 1
RGS9 1 0 0 0 0 0 1
RIMS1 0 0 1 0 0 0 1
RP1 0 0 1 0 0 0 1
RPGRIP1L 0 1 0 0 0 0 1
SLC38A8 0 1 0 0 0 0 1
TEAD3, TULP1 1 0 0 0 0 0 1
WDR19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 858 182 2399 2775 239 0 6453
Illumina Laboratory Services, Illumina 2 0 925 108 119 0 1150
Natera, Inc. 121 28 532 93 48 0 822
Fulgent Genetics, Fulgent Genetics 79 45 200 66 9 0 399
Laboratory of Genetics in Ophthalmology, Institut Imagine 240 132 9 1 0 0 382
Baylor Genetics 177 159 8 0 0 0 344
Genome-Nilou Lab 65 36 116 46 38 0 301
OMIM 113 0 1 0 0 0 114
Mendelics 31 22 6 8 9 0 76
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 26 0 0 0 0 57
DBGen Ocular Genomics 30 11 8 0 0 0 49
Ocular Genomics Institute, Massachusetts Eye and Ear 15 21 10 0 0 0 46
3billion 13 18 6 0 0 0 37
Sharon lab, Hadassah-Hebrew University Medical Center 29 7 0 0 0 0 36
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 7 11 1 0 0 29
Institute of Vision Research, Yonsei University College of Medicine 17 11 0 0 0 0 28
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 10 9 5 0 0 0 24
NIHR Bioresource Rare Diseases, University of Cambridge 8 16 0 0 0 0 24
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 9 7 1 0 0 24
Molecular Genetics Laboratory, Institute for Ophthalmic Research 20 0 3 0 0 0 23
Molecular Diagnostics Laboratory, Seoul National University Hospital 10 0 12 0 0 0 22
GeneReviews 3 0 0 0 0 20 22
New York Genome Center 1 1 18 0 0 0 20
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 13 3 2 0 0 0 18
Rui Chen Lab, Baylor College of Medicine 15 2 0 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 4 8 1 0 0 17
Revvity Omics, Revvity 7 5 3 0 0 0 15
Counsyl 2 0 2 9 2 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 11 0 3 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 1 6 0 13
Cytogenetics and Genomics Laboratory, Medical University of South Carolina 2 5 6 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 1 3 0 0 0 12
SIB Swiss Institute of Bioinformatics 0 7 4 0 0 0 11
Genomics England Pilot Project, Genomics England 5 5 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 4 0 0 0 0 8
MGZ Medical Genetics Center 5 2 1 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 3 1 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 4 2 0 0 0 8
Institute of Medical Molecular Genetics, University of Zurich 0 7 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 6 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 1 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 3 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Pars Genome Lab 0 0 0 3 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Australian Inherited Retinal Disease Registry & DNA Bank, Sir Charles Gairdner Hospital 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
Noruzinia Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Pediatrics Department, University of Wisconsin 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Department of Medical Genetics, University of Pecs 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 0 1 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Kunming Medical University 0 1 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 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
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 1 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.