ClinVar Miner

Variants studied for Leber congenital amaurosis

Coded as:
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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
237 109 591 97 51 3 1072

Gene and significance breakdown #

Total genes and gene combinations: 62
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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 33 18 46 9 9 0 109
GPHN, RDH12 16 6 29 8 2 0 60
LCA5 7 2 26 7 4 2 47
LRAT 0 2 26 5 0 0 33
AIPL1 6 3 13 3 0 0 25
GPHN, RDH12, ZFYVE26 5 4 15 1 0 0 24
RPGRIP1 16 8 1 0 0 0 24
GUCY2D 4 14 1 0 0 0 19
RD3 0 0 17 1 1 0 19
CEP290, RLIG1 3 0 11 1 0 0 15
CRX 2 1 4 1 3 0 11
SPATA7 5 6 0 0 0 0 11
TULP1 7 1 1 1 0 0 10
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
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: 21
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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 27 26 0 0 0 0 53
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
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 1 1 0 0 0 0 2
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
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 Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1

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