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 not provided total
127 96 232 341 77 14 783

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 95 17 92 306 21 0 531
Nephropathic cystinosis 54 64 111 13 44 5 267
Ocular cystinosis 4 1 84 9 42 2 140
Cystinosis 33 9 33 16 13 7 104
not provided 10 4 19 13 38 0 80
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 19 12 19 17 0 0 67
not specified 0 0 5 8 10 0 22
Inborn genetic diseases 1 0 17 1 0 0 19
CTNS-related condition 2 0 1 5 1 0 9
Juvenile nephropathic cystinosis 4 0 1 0 0 0 5
Cystinosis, atypical nephropathic 3 0 0 0 0 0 3
Infantile nephropathic cystinosis 2 1 0 0 0 0 3
See cases 0 0 2 1 1 0 3
Nephrotic syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 95 17 93 310 21 0 536
Illumina Laboratory Services, Illumina 0 0 91 11 38 0 140
Baylor Genetics 41 27 1 0 0 0 69
Natera, Inc. 15 1 25 14 11 0 66
Counsyl 8 34 13 2 0 0 57
GeneDx 5 2 3 9 36 0 55
Fulgent Genetics, Fulgent Genetics 13 4 17 14 0 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 8 5 6 4 0 41
Ambry Genetics 1 0 17 1 0 0 19
OMIM 17 0 0 0 0 0 17
PreventionGenetics, part of Exact Sciences 2 0 1 7 6 0 16
GeneReviews 1 0 0 0 0 14 15
Genome-Nilou Lab 0 0 3 0 12 0 15
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 1 9 0 12
Eurofins Ntd Llc (ga) 2 0 5 0 4 0 11
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 3 0 1 0 4 0 8
Myriad Genetics, Inc. 1 6 0 0 0 0 7
CeGaT Center for Human Genetics Tuebingen 1 0 2 3 0 0 6
3billion 5 1 0 0 0 0 6
Revvity Omics, Revvity 3 1 1 0 0 0 5
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 5 0 0 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 2 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 3 0 4
Institute of Human Genetics, Cologne University 0 1 2 0 0 0 3
Mendelics 2 0 0 1 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 3 0 0 0 0 0 3
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
ISCA site 4 0 0 1 1 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 1 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 0 0 0 0 2
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
ISCA site 8 0 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Congenital and Hereditary Diseases, Charles Nicolle Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 1 0 0 0 0 1

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