ClinVar Miner

Variants studied for Leber congenital amaurosis 1

Included ClinVar conditions (6):
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
101 57 508 173 50 1 879

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRX 1 2 36 41 25 0 105
CEP290 8 3 68 7 4 0 90
AIPL1 4 1 45 36 1 0 86
RD3 0 0 77 8 1 0 86
CRB1 16 12 19 30 3 0 78
LCA5 6 0 52 4 3 0 64
RPGRIP1 10 6 30 10 5 0 59
LRAT 0 3 45 7 0 0 55
GUCY2D 18 10 7 0 4 0 37
GIGYF2, KCNJ13 1 0 29 4 0 0 34
TULP1 8 3 17 3 4 0 34
SPATA7 2 0 20 9 0 0 31
IMPDH1 0 0 22 8 0 0 30
RPE65 6 4 14 4 0 0 27
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
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
RDH12 1 1 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
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: 25
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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
Mendelics 16 13 5 8 8 0 50
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
Invitae 7 0 5 0 4 0 16
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
OMIM 7 0 1 0 0 0 8
Human Genetics - Radboudumc,Radboudumc 6 0 1 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 0 0 0 0 2
GeneReviews 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Noruzinia Laboratory,Tarbiat Modares University 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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