Variants studied for Patterned macular dystrophy 1

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
18	14	53	12	17	110

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
PRPH2	18	14	53	12	17	110

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	52	12	17	81
Mendelics	5	1	0	1	2	9
OMIM	7	0	0	0	0	7
Genome-Nilou Lab	0	0	0	0	5	5
MGZ Medical Genetics Center	3	1	0	0	0	4
Institute of Medical Molecular Genetics, University of Zurich	0	4	0	0	0	4
SingHealth Duke-NUS Institute of Precision Medicine	0	3	0	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	0	0	2
Genomics England Pilot Project, Genomics England	0	2	0	0	0	2
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	1	1	0	0	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	1	0	0	0	0	1
CGC Genetics, Unilabs	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Sharon lab, Hadassah-Hebrew University Medical Center	0	1	0	0	0	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	1	0	0	0	1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology	0	0	1	0	0	1
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	1	0	0	0	1

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