ClinVar Miner

Variants studied for BEST1-related recessive retinopathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
28 31 10 1 7 2 70

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BEST1 24 25 9 1 7 2 62
BEST1, FTH1 4 4 1 0 0 0 6
CRB1 0 1 0 0 0 0 1
PRPH2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3billion 10 4 2 0 0 0 16
Fulgent Genetics, Fulgent Genetics 5 0 1 1 2 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 1 0 0 0 7
Institute of Medical Molecular Genetics, University of Zurich 0 7 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 2 0 0 0 7
Genome-Nilou Lab 0 0 0 0 5 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 2 2 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
OMIM 4 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 2 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 1 0 0 0 0 1
Ophthalmology Department, Faculty of Medicine, Ain Shams University 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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