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
209 48 523 181 69 1 1006

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 30 4 76 7 4 0 121
CRX 5 3 35 40 26 0 108
RD3 5 0 78 8 2 0 93
AIPL1 10 0 47 35 4 0 91
RPGRIP1 23 7 33 10 9 0 77
CRB1 16 4 21 27 7 0 71
LCA5 6 0 52 4 2 0 64
RPE65 18 7 19 13 4 0 56
LRAT 3 0 44 7 0 0 54
SPATA7 10 1 21 10 1 0 42
GIGYF2, KCNJ13 5 1 29 4 0 0 38
TULP1 15 0 17 3 3 0 38
IMPDH1 2 0 21 8 0 0 31
GUCY2D 15 4 4 0 5 0 28
NMNAT1 11 5 0 2 0 0 17
GPHN, RDH12 13 3 0 0 0 0 16
GDF6 4 0 0 1 2 0 7
USH2A 0 0 7 0 0 0 7
C12orf29, CEP290 0 0 4 1 0 0 5
GPHN, RDH12, ZFYVE26 3 1 0 0 0 0 4
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
TUBB4B 2 2 0 0 0 0 2
AHI1 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
GUCA1B 0 0 1 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
PDE6A 1 0 0 0 0 0 1
PEX1 0 0 0 0 0 1 1
RDH12 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: 33
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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 106 0 1 0 0 0 107
Invitae 25 3 11 4 28 0 71
Fulgent Genetics 14 1 15 0 0 0 30
NIHR Bioresource Rare Diseases,University of Cambridge 8 16 0 0 0 0 24
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 1 0 0 0 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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 6 0 3 0 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 2 1 0 0 0 6
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 3 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
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
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
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

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