ClinVar Miner

Variants studied for Nephropathic cystinosis

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
23 36 117 14 45 233

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
CTNS 22 36 110 14 41 221
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 7 0 3 10
CTNS, SHPK, TRPV1 1 0 0 0 0 1
CTNS, TRPV1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 104 12 44 160
Counsyl 8 34 13 2 1 58
OMIM 9 0 0 0 0 9
GeneReviews 7 0 0 0 0 7
Mendelics 2 0 0 1 0 3
Institute of Human Genetics,Cologne University 0 1 1 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Myriad Women's Health, Inc. 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 1

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