ClinVar Miner

Variants studied for Leber congenital amaurosis

Coded as:
Minimum submission review status: Collection method:
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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
67 40 494 168 40 1 808

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRX 0 1 35 40 25 0 101
CEP290 8 3 68 7 4 0 90
RD3 0 0 77 8 1 0 86
AIPL1 4 1 45 35 0 0 85
LCA5 5 0 52 4 2 0 63
CRB1 8 6 17 27 3 0 61
LRAT 0 1 44 7 0 0 52
RPGRIP1 7 4 29 10 2 0 52
GIGYF2, KCNJ13 1 0 29 4 0 0 34
SPATA7 2 0 20 9 0 0 31
IMPDH1 0 0 22 8 0 0 30
TULP1 5 0 17 3 3 0 28
RPE65 6 4 14 4 0 0 27
GUCY2D 2 7 0 0 0 0 9
USH2A 0 0 7 0 0 0 7
C12orf29, CEP290 0 0 4 1 0 0 5
NMNAT1 1 5 0 0 0 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
GPHN, RDH12 1 1 0 0 0 0 2
IMPDH1, LOC107986845 0 0 1 1 0 0 2
NPHP4 0 0 2 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
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
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
SLC38A8 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 470 168 40 0 678
Sharon lab,Hadassah-Hebrew University Medical Center 29 7 0 0 0 0 36
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
Rui Chen Lab,Baylor College of Medicine 15 2 0 0 0 0 17
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
Human Genetics - Radboudumc,Radboudumc 5 0 1 0 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare 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
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 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

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