ClinVar Miner

Variants studied for nephropathic infantile cystinosis

Included ClinVar conditions (3):
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
68 81 135 30 51 5 341

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CTNS 64 81 120 29 44 5 314
CTNS, LOC130059980 0 0 6 1 3 0 10
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 7 0 3 0 10
CTNS, LOC130059980, LOC130059981 3 0 0 0 0 0 3
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: 34
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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
Fulgent Genetics, Fulgent Genetics 13 4 17 14 0 0 48
Genome-Nilou Lab 0 0 3 0 12 0 15
Labcorp Genetics (formerly Invitae), Labcorp 8 0 2 3 0 0 13
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
Myriad Genetics, Inc. 1 6 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 3 2 2 0 0 0 7
3billion 5 1 0 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
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 1 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 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
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
Juno Genomics, Hangzhou Juno Genomics, Inc 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 1 0 0 0 0 1

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