Variants studied for Cone-rod dystrophy 15

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
9	8	131	12	11	166

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
CDHR1	9	8	128	11	11	162
CDHR1, LOC130004216	0	0	1	1	0	2
RPE65	0	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	113	8	6	127
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	1	3	0	0	6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	2	2	2	0	0	6
Genome-Nilou Lab	0	0	2	0	4	6
Mendelics	1	0	4	0	0	5
DBGen Ocular Genomics	1	2	1	0	0	4
OMIM	3	0	0	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	2	1	0	3
Institute of Human Genetics, University of Leipzig Medical Center	0	2	1	0	0	3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	3	0	3
Institute of Medical Molecular Genetics, University of Zurich	0	2	0	0	0	2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	2	0	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	2	0	0	2
Department of Medical Genetics, Erciyes University Faculty of Medicine	0	1	1	0	0	2
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	0	1	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	0	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	1	0	0	0	0	1

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