Variants studied for Cone-rod dystrophy 6

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	4	9	0	4	28

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
GUCY2D	12	4	7	4	26
BEST1	0	0	1	0	1
KCNV2	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Mendelics	4	1	4	2	11
OMIM	5	0	0	0	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	3	0	1	0	4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	2	0	1	0	3
Genomics England Pilot Project, Genomics England	2	1	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	0	2
Genome-Nilou Lab	0	0	0	2	2
Institute of Medical Molecular Genetics, University of Zurich	0	1	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	1
Noruzinia Laboratory, Tarbiat Modares University	0	0	1	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	1
Department of Ophthalmology, California Pacific Medical Center	0	0	1	0	1
3billion	1	0	0	0	1
Suma Genomics	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	1	1

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