Variants studied for Achromatopsia

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
49	22	111	23	26	225

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
PDE6C	7	6	67	9	9	98
CNGB3	18	4	39	13	17	88
CNGA3	21	10	4	1	0	33
ATF6	1	2	0	0	0	3
CABP4	1	0	1	0	0	2
GNAT2	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	0	0	66	12	10	88
Natera, Inc.	5	1	34	11	16	67
Sharon lab,Hadassah-Hebrew University Medical Center	19	10	0	0	0	29
Molecular Genetics Laboratory,Institute for Ophthalmic Research	17	1	7	0	0	25
Institute for Ophthalmic Research,University Tuebingen	14	3	3	0	0	20
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet	3	2	1	0	0	6
NIHR Bioresource Rare Diseases, University of Cambridge	1	5	0	0	0	6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	4	1	0	0	0	5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	0	1

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