Variants studied for 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	not provided	total
36	10	36	16	13	7	110

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	benign	not provided	total
CTNS	36	9	36	16	13	7	109
CTNS, TAX1BP3	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Natera, Inc.	15	1	25	14	11	0	66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	20	9	0	0	0	0	29
Illumina Laboratory Services, Illumina	0	0	9	2	2	0	13
GeneReviews	0	0	0	0	0	7	7
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences	5	0	0	0	0	0	5
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	2	0	4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	0	0	0	0	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	2	0	0	0	0	0	2
Sydney Genome Diagnostics, Children's Hospital Westmead	2	0	0	0	0	0	2
Centogene AG - the Rare Disease Company	1	0	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	0	1	0	0	0	1

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