ClinVar Miner

Variants studied for CTSC-related disorder

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
84 22 160 218 23 1 478

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CTSC 75 21 134 185 22 1 413
CTSC, LOC130006572 9 1 25 33 1 0 64
CTSC, GRM5, TYR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 70 10 126 208 17 0 431
Illumina Laboratory Services, Illumina 0 1 34 6 7 0 47
Fulgent Genetics, Fulgent Genetics 3 6 5 0 1 0 15
OMIM 13 0 0 0 0 0 13
PreventionGenetics, part of Exact Sciences 1 0 1 7 1 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
State Key Laboratory Of Oral Diseases, Sichuan University 2 0 0 0 0 0 2
3billion 1 0 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Faculty of Allied and Health Sciences, Imperial College of Business Studies 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Medical Genetics Research Center, Mashhad University of Medical Sciences 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1

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