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
82 51 145 90 61 394

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nephropathic cystinosis 26 37 110 14 41 224
Ocular cystinosis 4 0 90 10 39 143
Cystinosis 24 4 29 11 10 77
Ocular cystinosis; Juvenile nephropathic cystinosis; not provided 0 0 0 59 0 59
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 19 7 6 7 11 50
not provided 4 2 13 11 14 44
Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 36 4 2 0 0 42
not specified 0 0 0 3 9 12
Juvenile nephropathic cystinosis 5 0 0 0 0 5
See cases 0 0 1 2 3 5
Cystinosis, atypical nephropathic 3 0 0 0 0 3
Ocular cystinosis; Juvenile nephropathic cystinosis; Cystinosis 0 0 2 0 0 2
Inborn genetic diseases 1 0 0 0 0 1
none provided 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 98 12 41 151
Invitae 49 5 10 73 11 148
Counsyl 8 34 13 2 0 57
Natera, Inc. 6 1 20 9 8 44
Integrated Genetics/Laboratory Corporation of America 10 3 0 1 4 18
OMIM 17 0 0 0 0 17
GeneReviews 15 0 0 0 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 5 0 4 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 1 9 11
GeneDx 1 1 0 0 7 9
PreventionGenetics, 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 5 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 3 4
Myriad Women's Health, Inc. 1 3 0 0 0 4
Baylor Genetics 3 0 0 0 0 3
Institute of Human Genetics,Cologne University 0 1 2 0 0 3
Mendelics 2 0 0 1 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 0 0 0 2
Ambry Genetics 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 1
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 Fairview: University of Minnesota 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 1
Congenital and Hereditary Diseases, Charles Nicolle Hospital 0 1 0 0 0 1

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