ClinVar Miner

Variants studied for Leber congenital amaurosis 1

Included ClinVar conditions (7):
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
221 120 483 128 63 1 1001

Gene and significance breakdown #

Total genes and gene combinations: 56
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GUCY2D 70 62 178 67 15 0 382
CEP290 29 9 119 14 18 0 189
CRB1 26 12 27 14 5 0 82
RPE65 17 5 19 4 7 0 51
LCA5 7 0 26 7 6 0 46
LRAT 0 3 27 5 0 0 35
AIPL1 6 1 13 5 1 0 26
RDH12 6 2 12 3 2 0 25
RPGRIP1 14 6 2 0 3 0 24
RD3 0 0 17 1 1 0 19
CRX 3 2 5 3 3 0 16
TULP1 9 3 1 1 2 0 16
RDH12, ZFYVE26 1 1 9 1 0 0 12
NMNAT1 4 5 0 0 0 0 8
USH2A 0 1 7 0 0 0 8
GIGYF2, KCNJ13 1 0 3 1 0 0 5
IQCB1 3 2 0 0 0 0 5
SPATA7 3 1 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
AHI1 2 0 0 0 0 0 2
C12orf29, CEP290 0 0 1 1 0 0 2
NPHP4 0 0 2 0 0 0 2
PROM1 2 0 0 0 0 0 2
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 1
CC2D2A 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
COPB2-DT, RBP1 0 0 1 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
IMPDH1 0 0 1 0 0 0 1
IMPDH1, LOC107986845 0 0 0 1 0 0 1
INPP5E 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
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
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
WDR19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 46 6 196 39 34 0 321
Invitae 30 5 172 66 15 0 288
Illumina Clinical Services Laboratory,Illumina 0 0 78 15 7 0 100
Laboratory of Genetics in Ophthalmology,Institut Imagine 36 38 2 1 0 0 77
Mendelics 15 13 5 8 8 0 49
Sharon lab,Hadassah-Hebrew University Medical Center 29 7 0 0 0 0 36
Institute of Vision Research, Yonsei University College of Medicine 17 11 0 0 0 0 28
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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 14 0 0 0 0 0 14
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
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 2 0 0 0 4
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
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
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
Baylor Genetics 0 0 1 0 0 0 1
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
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
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 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
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 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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