Variants studied for Pigmentary retinal dystrophy

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
27	25	110	33	30	1	223

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PRPH2	5	3	52	12	17	0	89
RLBP1	2	3	35	14	6	0	59
BLOC1S1-RDH5, RDH5	10	11	10	5	3	1	38
BLOC1S1-RDH5, CD63, RDH5	7	5	12	2	1	0	27
RHO	3	3	1	0	3	0	10

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	0	101	33	25	0	160
Fulgent Genetics, Fulgent Genetics	5	6	0	0	0	0	11
Centre for Mendelian Genomics, University Medical Centre Ljubljana	4	6	1	0	0	0	11
Genome-Nilou Lab	0	0	0	0	11	0	11
Sharon lab, Hadassah-Hebrew University Medical Center	7	2	0	0	0	0	9
3billion	1	5	1	0	0	0	7
Mendelics	4	2	0	0	0	0	6
Revvity Omics, Revvity	2	1	1	0	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	3	1	0	0	0	0	4
Juno Genomics, Hangzhou Juno Genomics, Inc	2	0	0	0	0	0	2
OMIM	1	0	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	1	0	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	0	1	0	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	1	0	0	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	0	1
Department of Animal Sciences, Quaid-i-Azam University	0	1	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	0	1
DASA	1	0	0	0	0	0	1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center	0	0	1	0	0	0	1
Pangenia Genomics, Pangenia Inc.	1	0	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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