ClinVar Miner

Variants studied for Leber congenital amaurosis

Coded as:
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Gene type:
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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
248 115 591 97 51 3 1088

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 64 13 273 30 24 0 401
CRB1 30 12 99 28 8 0 176
RPE65 34 21 46 9 9 0 112
GPHN, RDH12 17 6 29 8 2 0 61
LCA5 7 2 26 7 4 2 47
LRAT 0 3 26 5 0 0 34
AIPL1 8 3 13 3 0 0 27
RPGRIP1 18 7 1 0 0 0 25
GPHN, RDH12, ZFYVE26 5 4 15 1 0 0 24
GUCY2D 5 15 1 0 0 0 21
RD3 0 0 17 1 1 0 19
CEP290, RLIG1 3 0 11 1 0 0 15
TULP1 10 1 1 1 0 0 13
SPATA7 6 6 0 0 0 0 12
CRX 2 1 4 1 3 0 11
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
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
CCT2 0 2 0 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
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
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 117 26 486 82 45 0 756
Illumina Laboratory Services, Illumina 0 0 78 15 7 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 41 29 0 0 0 0 70
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
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
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 12 0 0 0 12
DBGen Ocular Genomics 6 4 2 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 0 1 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 2 0 0 0 0 2
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1

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