ClinVar Miner

Variants studied for Nephropathic cystinosis

Coded as:
Minimum submission review status: Collection method:
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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
58 73 126 14 51 5 301

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CTNS 57 73 111 13 44 5 277
CTNS, LOC130059980 0 0 6 1 3 0 10
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 7 0 3 0 10
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1 1 0 0 0 0 0 1
CTNS, LOC130059981 0 0 1 0 0 0 1
CTNS, TRPV1 0 0 0 0 1 0 1
SLC66A1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 104 12 44 0 160
Baylor Genetics 43 32 1 0 0 0 76
Counsyl 8 34 13 2 1 0 58
Genome-Nilou Lab 0 0 3 0 12 0 15
OMIM 9 0 0 0 0 0 9
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 3 0 1 0 4 0 8
GeneReviews 2 0 0 0 0 5 7
3billion 5 1 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 2 2 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 1 0 0 0 4
Mendelics 2 0 0 1 0 0 3
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 3 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Myriad Genetics, Inc. 1 1 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Congenital and Hereditary Diseases, Charles Nicolle Hospital 0 1 0 0 0 0 1
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 1 0 0 0 0 1

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