ClinVar Miner

Variants studied for BEST1-related recessive retinopathy

Included ClinVar conditions (2):
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 total
15 20 7 1 7 44

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 total
BEST1 14 17 7 1 6 40
BEST1, FTH1 1 1 0 0 1 2
CRB1 0 1 0 0 0 1
PRPH2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 4 0 1 1 2 8
Institute of Medical Molecular Genetics, University of Zurich 0 7 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 1 0 0 7
Genome-Nilou Lab 0 0 0 0 5 5
3billion 2 2 1 0 0 5
OMIM 4 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 3
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 2
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 1 0 0 0 1
Ophthalmology Department, Faculty of Medicine, Ain Shams University 0 0 1 0 0 1

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