ClinVar Miner

Variants studied for Crigler-Najjar syndrome

Included ClinVar conditions (6):
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 total
44 35 60 3 6 125

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 43 35 60 3 6 124
UGT1A1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 33 2 6 42
Fulgent Genetics, Fulgent Genetics 2 23 7 1 0 33
OMIM 20 0 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 5 1 4 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 7 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 7 0 0 9
Neonatal Research Center, Shiraz University of Medical Science 6 1 0 0 0 7
3billion 3 1 1 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 4 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 5
Genetic Services Laboratory, University of Chicago 2 2 0 0 0 4
Mendelics 1 2 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Immunology and Liver Gene Transfer, Genethon 2 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1

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