Variants studied for Cystinuria

Minimum submission review status:		Collection method:
Minimum conflict level:
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
32	9	59	12	6	115

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SLC7A9	18	3	28	11	1	59
SLC3A1	10	2	23	1	3	38
PREPL, SLC3A1	4	3	8	0	2	17
CEP89, SLC7A9	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	8	0	55	12	5	80
OMIM	24	0	0	0	0	24
Invitae	4	3	0	0	1	8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	2	2	1	0	0	5
Knight Diagnostic Laboratories,Oregon Health and Sciences University	1	4	0	0	0	5
Fulgent Genetics,Fulgent Genetics	1	1	0	0	0	2
Genomic Research Center,Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
CSER_CC_NCGL; University of Washington Medical Center	0	1	1	0	0	2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	0	1	1	0	0	2
Institute of Human Genetics,Cologne University	1	0	0	0	0	1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences	1	0	0	0	0	1
Center of Genomic medicine, Geneva,University Hospital of Geneva	1	0	0	0	0	1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	0	1	0	0	0	1
Snyder Lab, Genetics Department,Stanford University	1	0	0	0	0	1

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