ClinVar Miner

Variants in gene CTNS

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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
55 40 97 40 26 234

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nephropathic cystinosis 19 35 84 34 8 178
Cystinosis 18 2 71 32 8 130
not provided 3 2 11 1 15 32
Cystinosis, ocular nonnephropathic; Juvenile nephropathic cystinosis; Nephropathic cystinosis 20 3 3 1 2 28
not specified 0 0 1 2 7 10
Cystinosis, ocular nonnephropathic 4 0 1 0 0 5
See cases 0 0 1 2 3 5
Juvenile nephropathic cystinosis 4 0 0 0 0 4
Cystinosis, atypical nephropathic 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 72 32 8 112
Counsyl 9 34 13 2 0 58
Invitae 20 2 3 1 2 28
OMIM 17 0 0 0 0 17
GeneReviews 15 0 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 6 2 1 0 2 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 5 0 4 11
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 1 9 11
GeneDx 1 1 0 0 7 9
PreventionGenetics 0 0 0 2 5 7
ISCA site 4 0 0 1 2 2 5
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 5 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 3 4
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 0 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 2
ISCA site 8 0 0 0 0 1 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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