ClinVar Miner

Variants in gene BEST1

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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
106 80 154 46 18 121 395

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 64 32 112 32 4 121 308
Vitelliform macular dystrophy type 2 36 25 31 9 8 0 100
Retinal dystrophy 19 17 11 0 0 0 46
Vitreoretinochoroidopathy 3 0 17 9 13 0 42
Retinitis pigmentosa 2 1 24 4 4 0 35
Bestrophinopathy, autosomal recessive 11 11 2 0 0 0 22
not specified 0 0 1 3 8 0 10
Retinitis Pigmentosa, Recessive 0 0 2 4 2 0 8
none provided 0 0 0 0 6 0 6
Retinitis pigmentosa 50 4 0 0 0 0 0 4
Stargardt disease 1 2 1 0 0 0 4
Macular dystrophy 1 2 0 0 0 0 3
Isolated macular dystrophy 2 0 0 0 0 0 2
BEST1-Related Disorders 0 1 0 0 0 0 1
Bestrophinopathy, autosomal recessive; Vitelliform macular dystrophy type 2; Vitreoretinochoroidopathy; Retinitis pigmentosa 50 1 0 0 0 0 0 1
Cone-rod dystrophy 6 0 0 1 0 0 0 1
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 1 0 0 0 0 0 1
Rod-cone dystrophy 0 0 1 0 0 0 1
maculopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 51 11 96 27 4 0 189
Retina International 0 0 0 0 0 120 120
Blueprint Genetics 17 16 10 0 0 0 43
Illumina Clinical Services Laboratory,Illumina 0 2 25 12 13 0 40
GeneDx 17 10 8 3 0 0 38
CeGaT Praxis fuer Humangenetik Tuebingen 12 7 8 4 0 0 31
OMIM 25 0 0 0 0 0 25
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 1 11 0 8 0 22
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 7 9 2 0 0 0 18
Sharon lab,Hadassah-Hebrew University Medical Center 12 1 0 0 0 0 13
Institute of Medical Molecular Genetics, University of Zurich 0 11 0 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 5 0 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 3 1 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 6 0 6
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 1 3 2 0 0 0 6
Molecular Genetics Laboratory,Institute for Ophthalmic Research 5 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 3 0 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 4 0 0 0 5
Baylor Genetics 3 0 1 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 1 2 0 3
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Mendelics 0 1 0 0 1 0 2
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Human Genetics - Radboudumc,Radboudumc 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 1 0 0 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Noruzinia Laboratory,Tarbiat Modares University 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

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