Variants studied for autosomal recessive bestrophinopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
19	25	8	1	7	2	56

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	18	21	8	1	6	2	51
BEST1, FTH1	1	2	0	0	1	0	3
CRB1	0	1	0	0	0	0	1
PRPH2	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	4	0	1	1	2	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	3	3	1	0	0	0	7
Juno Genomics, Hangzhou Juno Genomics, Inc	1	3	1	0	0	0	5
Genome-Nilou Lab	0	0	0	0	5	0	5
3billion	2	2	1	0	0	0	5
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	0	2
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	0	2	2
Medical Molecular Genetics Department, National Research Center	0	2	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
Department of Medical Genetics, College of Basic Medicine, Army Medical University	2	0	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
MGZ Medical Genetics Center	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	1	0	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	0	0	1
Sydney Genome Diagnostics, Children's Hospital Westmead	0	1	0	0	0	0	1
DBGen Ocular Genomics	1	0	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

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