ClinVar Miner

Variants studied for Leber congenital amaurosis

Included ClinVar conditions (41):
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
520 257 1400 279 227 1 2521

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRB1 101 50 145 57 21 0 344
GUCY2D 61 50 80 27 15 0 227
RPGRIP1 40 18 133 27 25 0 218
RPE65 55 42 96 40 19 0 214
CRX 25 5 108 29 41 0 199
AIPL1 29 3 116 21 29 0 176
CEP290 26 8 125 7 9 0 175
RD3 5 0 114 12 17 0 143
LCA5 20 2 94 5 7 0 128
SPATA7 19 3 64 11 13 0 104
LRAT 5 7 80 7 6 0 101
TULP1 29 8 37 2 5 0 81
IMPDH1 2 0 61 7 5 0 73
RDH12 30 16 18 11 3 0 73
NMNAT1 24 26 11 4 4 0 64
GIGYF2, KCNJ13 7 2 48 3 3 0 62
GDF6 4 0 23 5 4 0 36
RDH12, ZFYVE26 11 7 12 2 1 0 31
USH2A 0 1 7 0 0 0 8
C12orf29, CEP290 0 0 6 1 0 0 7
IQCB1 3 2 0 0 0 0 5
IMPDH1, LOC107986845 0 0 3 1 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
NPHP4 0 0 2 0 0 0 2
PROM1 2 0 0 0 0 0 2
TSTD3, USP45 1 0 1 0 0 0 2
TUBB4B 2 2 0 0 0 0 2
AHI1 1 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 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
CRX, SULT2A1 0 0 1 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 1
DEPDC1, RPE65 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
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
PCYT1A 1 0 0 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
PRPF8 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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 925 108 119 0 1149
Invitae 178 35 436 162 115 0 926
Laboratory of Genetics in Ophthalmology,Institut Imagine 207 127 7 1 0 0 342
OMIM 109 0 1 0 0 0 110
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 Genetics Laboratory,Institute for Ophthalmic Research 19 0 3 0 0 0 22
Molecular Diagnostics Laboratory,Seoul National University Hospital 10 0 12 0 0 0 22
GeneReviews 22 0 0 0 0 0 22
Broad Institute Rare Disease Group,Broad Institute 6 8 4 0 0 0 18
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
SIB Swiss Institute of Bioinformatics 0 7 4 0 0 0 11
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
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
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
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
Department of Molecular and Human Genetics, Baylor College of Medicine 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 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
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 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
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 1
Pediatrics Genetics,Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1

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