ClinVar Miner

Variants studied for cystinosis

Included ClinVar conditions (5):
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
53 39 93 37 12 221

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 52 39 87 35 10 210
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: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 78 34 9 121
Counsyl 9 34 13 2 1 59
Invitae 20 2 3 1 2 28
OMIM 16 0 0 0 0 16
GeneReviews 16 0 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 6 2 0 0 0 8
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 5 0 0 0 0 5
Institute of Human Genetics,Cologne University 0 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
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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