ClinVar Miner

Variants studied for Leber congenital amaurosis 1

Included ClinVar conditions (8):
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
385 198 1057 713 96 4 2404

Gene and significance breakdown #

Total genes and gene combinations: 67
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GUCY2D 132 87 458 609 37 1 1293
CEP290 64 13 273 30 24 0 401
CRB1 36 18 101 31 8 0 192
RPE65 34 19 46 9 9 0 110
GPHN, RDH12 17 6 29 8 2 0 61
LCA5 8 2 26 7 6 2 50
LRAT 0 4 27 5 0 0 36
RPGRIP1 18 10 2 0 3 0 32
AIPL1 7 3 13 5 1 0 29
GPHN, RDH12, ZFYVE26 5 4 15 1 0 0 24
RD3 0 0 17 1 1 0 19
TULP1 11 4 1 1 2 0 19
CRX 3 2 5 3 3 0 16
CEP290, RLIG1 3 0 11 1 0 0 15
SPATA7 6 6 0 0 0 0 12
NMNAT1 4 5 0 0 0 0 8
USH2A 0 1 6 0 0 0 7
ALMS1 3 3 0 0 0 0 6
IQCB1 5 2 0 0 0 0 6
CEP290, LOC129390514 2 0 3 0 0 0 5
GIGYF2, KCNJ13 1 0 3 1 0 0 5
PROM1 4 0 0 0 0 0 4
CNGB3 3 0 0 0 0 0 3
LOC130056226, SPATA7 1 2 0 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 1 0 0 0 0 0 1
ABCA4, LOC126805793 0 1 0 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
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
CLUAP1 1 0 0 0 0 0 1
COPB2-DT, RBP1 0 0 1 0 0 0 1
DTHD1 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
IMPDH1 0 0 1 0 0 0 1
IMPDH1, LOC107986845 0 0 0 1 0 0 1
INPP5E 0 1 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
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
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
WDR19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 97 15 450 606 36 0 1204
Natera, Inc. 117 26 486 82 45 0 756
Illumina Laboratory Services, Illumina 0 0 78 15 7 0 100
Laboratory of Genetics in Ophthalmology, Institut Imagine 36 38 2 1 0 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 26 0 0 0 0 57
Mendelics 18 13 5 8 8 0 52
Sharon lab, Hadassah-Hebrew University Medical Center 29 7 0 0 0 0 36
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
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
DBGen Ocular Genomics 10 5 2 0 0 0 17
Fulgent Genetics, Fulgent Genetics 2 1 9 2 2 0 16
Molecular Genetics Laboratory, Institute for Ophthalmic Research 14 0 0 0 0 0 14
Cytogenetics and Genomics Laboratory, Medical University of South Carolina 2 5 6 0 0 0 13
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 12 0 0 0 12
OMIM 7 0 1 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 3 0 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 0 1 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 2 0 0 0 6
3billion 1 4 0 0 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 2 0 0 0 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Australian Inherited Retinal Disease Registry & DNA Bank, Sir Charles Gairdner Hospital 1 0 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Noruzinia Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 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
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 1 0 0 0 0 1

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