Variants studied for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis

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
22	12	19	17	0	70

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
CTNS	19	12	19	17	67
CTNS, LOC130059980, LOC130059981	3	0	0	0	3

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Fulgent Genetics, Fulgent Genetics	13	4	17	14	48
Invitae	8	0	2	3	13
Myriad Genetics, Inc.	0	5	0	0	5
Baylor Genetics	2	0	0	0	2
Hadassah Hebrew University Medical Center	0	2	0	0	2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	1

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