ClinVar Miner

Variants studied for Leber congenital amaurosis

Included ClinVar conditions (38):
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
261 104 550 184 58 1 1130

Gene and significance breakdown #

Total genes and gene combinations: 54
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 24 8 77 7 4 0 120
CRX 6 4 36 41 25 0 112
CRB1 33 18 25 30 3 0 105
AIPL1 13 2 50 36 1 0 98
RD3 5 0 80 8 2 0 95
RPGRIP1 30 11 35 10 7 0 88
LCA5 9 0 56 4 3 0 71
RPE65 24 13 21 13 2 0 68
LRAT 3 3 45 7 0 0 58
TULP1 24 3 17 3 4 0 50
SPATA7 10 1 21 9 0 0 41
GIGYF2, KCNJ13 5 1 29 4 0 0 38
GUCY2D 18 10 7 0 4 0 37
IMPDH1 2 0 22 8 0 0 32
RDH12 15 11 1 0 1 0 27
NMNAT1 11 6 0 2 1 0 19
RDH12, ZFYVE26 4 3 1 0 0 0 7
USH2A 0 0 7 0 0 0 7
C12orf29, CEP290 0 0 4 1 0 0 5
GDF6 4 0 0 0 1 0 5
IQCB1 2 2 0 0 0 0 4
CNGB3 3 0 0 0 0 0 3
RP2 2 1 0 0 0 0 3
ABCA4 1 1 0 0 0 0 2
ADAMTS18 0 0 2 0 0 0 2
IMPDH1, LOC107986845 0 0 1 1 0 0 2
NPHP4 0 0 2 0 0 0 2
PROM1 2 0 0 0 0 0 2
TUBB4B 2 2 0 0 0 0 2
AHI1 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
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, LOC100130798 1 0 0 0 0 0 1
GUCA1B 0 0 1 0 0 0 1
INPP5E 0 1 0 0 0 0 1
LOC100507291, RBP1 0 0 1 0 0 0 1
LOC102723833, USH2A 0 1 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
PANK2 0 0 1 0 0 0 1
PDE6A 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
SLC38A8 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 470 168 40 0 679
OMIM 108 0 1 0 0 0 109
Invitae 42 12 16 0 8 0 78
Mendelics 22 20 6 8 8 0 64
Sharon lab,Hadassah-Hebrew University Medical Center 29 7 0 0 0 0 36
Fulgent Genetics,Fulgent Genetics 14 1 15 0 0 0 30
NIHR Bioresource Rare Diseases, University of Cambridge 8 16 0 0 0 0 24
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 10 8 5 0 0 0 23
Molecular Diagnostics Laboratory,Seoul National University Hospital 10 0 12 0 0 0 22
GeneReviews 22 0 0 0 0 0 22
Rui Chen Lab,Baylor College of Medicine 15 2 0 0 0 0 17
Counsyl 2 0 2 9 2 0 15
Human Genetics - Radboudumc,Radboudumc 11 0 3 0 0 0 14
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 2 5 6 0 0 0 13
Broad Institute Rare Disease Group,Broad Institute 4 5 2 0 0 0 11
Molecular Genetics Laboratory,Institute for Ophthalmic Research 6 0 3 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 1 2 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 3 1 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 6 0 0 0 0 7
Ocular Genomics Institute,Massachusetts Eye and Ear 2 4 1 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 3 0 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, Oman 0 3 0 0 0 0 3
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
Columbia University Medical Center,Columbia University 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Australian Inherited Retinal Disease Registry & DNA Bank,Sir Charles Gairdner Hospital 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 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
Noruzinia Laboratory,Tarbiat Modares University 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Pediatrics Department,University of Wisconsin 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 1

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