Variants studied for Retinitis pigmentosa 20

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	total
16	13	11	0	1	39

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
RPE65	16	13	11	1	39

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Ocular Genomics Institute, Massachusetts Eye and Ear	4	3	3	0	10
OMIM	7	0	1	0	8
Genome-Nilou Lab	0	0	3	1	4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	1	1	1	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	1	1	0	3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	2	0	0	3
3billion, Medical Genetics	2	1	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	1	1	1	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	1	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	1	0	0	2
DBGen Ocular Genomics	2	0	0	0	2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	1	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	1	0	0	0	1
Pars Genome Lab	1	0	0	0	1
Department of Medical Genetics, Erciyes University Faculty of Medicine	0	1	0	0	1

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