Variants studied for Retinitis pigmentosa 54

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
14	12	6	7	16	54

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	total
PCARE	14	12	6	7	16	54

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	2	7	9
Fulgent Genetics, Fulgent Genetics	0	0	4	3	0	7
Genome-Nilou Lab	0	0	0	0	7	7
DBGen Ocular Genomics	4	3	0	0	0	7
OMIM	5	0	0	0	0	5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	1	0	0	2	2	5
Ocular Genomics Institute, Massachusetts Eye and Ear	0	3	0	0	0	3
3billion	2	1	0	0	0	3
Mendelics	0	0	0	1	1	2
Institute of Medical Molecular Genetics, University of Zurich	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
Moosajee Lab, UCL Institute of Ophthalmology	0	1	0	0	0	1
Sydney Genome Diagnostics, Children's Hospital Westmead	0	1	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	1	0	0	0	0	1

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