Variants studied for juvenile 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
106	29	100	312	21	555

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CTNS	98	29	99	312	21	546
CTNS, LOC130059980, LOC130059981	3	0	0	0	0	3
ASPA, CTNS, SHPK, TAX1BP3, TRPV1, TRPV3	1	0	0	0	0	1
ASPA, CTNS, SHPK, TRPV1, TRPV3	1	0	0	0	0	1
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1	1	0	0	0	0	1
CTNS, SHPK	1	0	0	0	0	1
CTNS, SHPK, TAX1BP3	0	0	1	0	0	1
CTNS, SHPK, TRPV1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	103	18	94	309	21	545
Fulgent Genetics, Fulgent Genetics	13	4	17	14	0	48
OMIM	5	0	0	0	0	5
Myriad Genetics, Inc.	0	5	0	0	0	5
Baylor Genetics	2	0	0	0	0	2
Hadassah Hebrew University Medical Center	0	2	0	0	0	2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Genome-Nilou Lab	0	0	1	0	0	1

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