Variants studied for Cone-rod dystrophy 2

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
12	9	60	10	63	154

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CRX	9	8	58	10	62	147
PROM1	3	0	0	0	0	3
AIPL1	0	1	0	0	0	1
BICRA, C5AR1, C5AR2, CCDC9, CRX, DHX34, EHD2, INAFM1, KPTN, LINC01595, LOC112552166, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, SULT2A1, TPRX1, TPRX2, ZNF541	0	0	1	0	0	1
CRX, LINC01595, SULT2A1, TPRX1, TPRX2	0	0	1	0	0	1
CRX, TPRX2	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	56	10	63	129
OMIM	6	0	0	0	0	6
Mendelics	2	1	0	0	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	3	0	0	3
Laboratory of Genetics in Ophthalmology, Institut Imagine	3	0	0	0	0	3
3billion, Medical Genetics	1	2	0	0	0	3
SingHealth Duke-NUS Institute of Precision Medicine	1	1	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	1	0	0	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	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	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Genome-Nilou Lab	1	0	0	0	0	1
Genomics England Pilot Project, Genomics England	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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