ClinVar Miner

Variants studied for Leber congenital amaurosis 1

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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 total
70 74 17 9 10 176

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GUCY2D 52 60 11 1 2 122
CRB1 8 6 2 4 0 20
RPGRIP1 3 2 1 0 3 9
TULP1 3 2 0 0 2 7
CRX 1 1 1 2 0 5
AIPL1 0 0 0 2 1 3
LCA5 1 0 0 0 2 3
LRAT 0 2 1 0 0 3
PROM1 2 0 0 0 0 2
​intergenic 0 1 0 0 0 1
RP1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory of Genetics in Ophthalmology, Institut Imagine 36 38 2 1 0 77
Mendelics 18 13 5 8 8 52
OMIM 7 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 2 0 0 6
3billion 1 4 0 0 0 5
DBGen Ocular Genomics 4 1 0 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 2 0 0 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Australian Inherited Retinal Disease Registry & DNA Bank, Sir Charles Gairdner Hospital 1 0 1 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Invitae 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Noruzinia Laboratory, Tarbiat Modares University 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 1

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