Variants studied for Retinitis pigmentosa 33

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
4	4	18	8	6	40

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SNRNP200	4	4	18	8	5	39
LOC126806272, SNRNP200	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	1	4	3	9
Fulgent Genetics, Fulgent Genetics	0	0	1	5	0	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	4	0	0	4
OMIM	3	0	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	3	0	0	3
Ocular Genomics Institute, Massachusetts Eye and Ear	1	1	1	0	0	3
Genome-Nilou Lab	0	0	0	0	3	3
Revvity Omics, Revvity	0	0	2	0	0	2
MGZ Medical Genetics Center	0	0	1	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
3billion, Medical Genetics	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
DBGen Ocular Genomics	0	0	1	0	0	1
Genomics England Pilot Project, Genomics England	1	0	0	0	0	1
Pangenia Genomics, Pangenia Inc.	0	0	1	0	0	1

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