Variants studied for Cone-rod dystrophy 12

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
13	13	50	23	38	135

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PROM1	12	12	50	23	38	133
CDHR1	1	0	0	0	0	1
CRLF1	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	48	22	36	106
Genome-Nilou Lab	0	0	0	0	5	5
Institute of Human Genetics, University of Leipzig Medical Center	4	0	0	0	0	4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	2	2	0	0	0	4
OMIM	3	0	0	0	0	3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	1	2	0	0	0	3
Institute of Medical Molecular Genetics, University of Zurich	0	3	0	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	1	1	0	3
MGZ Medical Genetics Center	2	0	0	0	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	2	0	0	0	0	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	2	0	0	0	2
Genomics England Pilot Project, Genomics England	1	1	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	1	0	0	0	1
3billion	1	0	0	0	0	1
Department of Medical Genetics, Erciyes University Faculty of Medicine	0	1	0	0	0	1

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