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
672 335 2019 630 241 1 3671

Gene and significance breakdown #

Total genes and gene combinations: 70
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRB1 134 69 230 164 21 0 570
GUCY2D 70 62 178 67 15 0 382
RPGRIP1 72 23 219 65 25 0 376
RPE65 73 50 129 92 19 0 317
CEP290 41 20 210 21 19 0 297
CRX 31 6 142 35 41 0 246
AIPL1 31 5 150 32 29 0 223
SPATA7 27 4 105 29 13 0 172
RD3 5 0 129 20 17 0 166
LCA5 19 3 116 12 11 0 156
RDH12 38 24 36 34 3 0 126
LRAT 5 7 81 7 6 0 102
TULP1 31 15 42 2 5 0 94
NMNAT1 34 26 29 9 4 0 93
IMPDH1 2 1 65 7 5 0 78
GDF6 4 0 44 15 4 0 67
GIGYF2, KCNJ13 7 2 49 3 3 0 63
RDH12, ZFYVE26 14 7 27 14 1 0 59
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
TUBB4B 2 2 1 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
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
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 1
ARG2, ATP6V1D, EIF2S1, FAM71D, FUT8, GPHN, PALS1, PIGH, PLEK2, PLEKHH1, RAD51B, RDH11, RDH12, TMEM229B, VTI1B, ZFYVE26 0 0 1 0 0 0 1
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 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
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 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
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
LCA5, SH3BGRL2 1 0 0 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
WDR19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 295 71 906 486 115 0 1873
Illumina Clinical Services Laboratory,Illumina 2 0 925 108 119 0 1150
Laboratory of Genetics in Ophthalmology,Institut Imagine 234 130 7 1 0 0 372
Natera, Inc. 46 6 197 39 34 0 322
OMIM 114 0 1 0 0 0 115
Mendelics 22 20 6 8 8 0 64
Ocular Genomics Institute, Massachusetts Eye and Ear 15 21 10 0 0 0 46
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
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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 20 0 3 0 0 0 23
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 5 1 0 0 20
Rui Chen Lab,Baylor College of Medicine 15 2 0 0 0 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 4 8 1 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 1 4 0 11
SIB Swiss Institute of Bioinformatics 0 7 4 0 0 0 11
Baylor Genetics 3 0 5 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 3 1 0 0 0 8
Institute of Medical Molecular Genetics, University of Zurich 0 7 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 6 0 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
Pars Genome Lab 0 0 0 3 0 0 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 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
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 0 1 1 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 Fairview: University of Minnesota 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 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
Breda Genetics srl 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
Moosajee Lab,UCL Institute of Ophthalmology 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 1

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