Variants studied for Retinitis pigmentosa 31

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
5	3	11	4	2	1	23

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TOPORS	5	3	11	4	2	1	23

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	0	2	4	0	0	6
OMIM	4	0	0	0	0	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	2	0	1	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	3	0	0	0	3
Ocular Genomics Institute, Massachusetts Eye and Ear	0	1	1	0	0	0	2
MGZ Medical Genetics Center	1	0	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	0	1	0	0	0	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
SingHealth Duke-NUS Institute of Precision Medicine	0	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
3billion, Medical Genetics	0	0	1	0	0	0	1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center	1	0	0	0	0	0	1

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