ClinVar Miner

Variants studied for cystinosis, nephropathic

Included ClinVar conditions (2):
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
35 37 92 37 12 207

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 34 37 86 35 10 196
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 6 2 1 9
CTNS, SHPK, TRPV1 1 0 0 0 0 1
CTNS, TRPV1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 77 34 9 120
Counsyl 9 34 13 2 1 59
Invitae 20 2 3 1 2 28
OMIM 9 0 0 0 0 9
GeneReviews 7 0 0 0 0 7
Institute of Human Genetics,Cologne University 0 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 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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