ClinVar Miner

Variants studied for Leber congenital amaurosis

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
405 440 828 89 45 3 1784

Gene and significance breakdown #

Total genes and gene combinations: 68
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 119 154 429 33 22 0 753
CRB1 62 78 188 30 8 0 362
RPE65 59 85 80 9 9 0 233
GPHN, RDH12 27 20 40 9 2 0 96
LCA5 9 3 23 7 4 2 47
GPHN, RDH12, ZFYVE26 10 16 17 1 0 0 43
GUCY2D 11 24 1 0 0 0 35
RPGRIP1 20 8 0 0 0 0 27
CEP290, RLIG1 4 9 13 0 0 0 26
TULP1 18 4 0 0 0 0 22
AIPL1 11 7 3 0 0 0 20
SPATA7 7 6 0 0 0 0 13
IQCB1 7 2 0 0 0 0 8
NMNAT1 4 5 0 0 0 0 8
ALMS1 4 3 0 0 0 0 7
CEP290, LOC129390514 3 0 4 0 0 0 7
USH2A 0 1 6 0 0 0 7
LRAT 1 3 0 0 0 0 4
CNGB3 3 0 0 0 0 0 3
CRX 2 1 0 0 0 0 3
LOC130056226, SPATA7 1 2 0 0 0 0 3
RP2 2 1 0 0 0 0 3
USP45 0 0 3 0 0 0 3
ADAMTS18, LOC126862407 0 0 2 0 0 0 2
AHI1 2 0 0 0 0 0 2
CCT2 0 2 0 0 0 0 2
NBAS 1 0 1 0 0 0 2
NPHP4 0 0 2 0 0 0 2
PROM1 2 0 0 0 0 0 2
ABCA4 1 0 0 0 0 0 1
ABCA4, LOC126805793 0 1 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
CLUAP1 1 0 0 0 0 0 1
COPB2-DT, RBP1 0 0 1 0 0 0 1
FSCN2 0 0 1 0 0 0 1
GIGYF2, KCNJ13 1 0 0 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
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
RD3 1 0 0 0 0 0 1
RGS9 1 0 0 0 0 0 1
RHO 0 0 1 0 0 0 1
RIMS1 0 0 1 0 0 0 1
RPGR 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 0 1 0 0 0 0 1
TTC8 0 0 1 0 0 0 1
WDR19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 242 328 792 89 45 0 1496
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 79 55 0 0 0 0 134
Sharon lab, Hadassah-Hebrew University Medical Center 29 7 0 0 0 0 36
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 16 11 4 0 0 0 31
Institute of Vision Research, Yonsei University College of Medicine 17 11 0 0 0 0 28
NIHR Bioresource Rare Diseases, University of Cambridge 8 16 0 0 0 0 24
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 10 8 5 0 0 0 23
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
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
DBGen Ocular Genomics 6 4 2 0 0 0 12
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 12 0 0 0 12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 0 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 0 0 6
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 3 2 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1

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