ClinVar Miner

Variants studied for Crigler-Najjar syndrome type 2

Included ClinVar conditions (4):
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
20 32 24 1 0 61

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 total
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 19 32 24 1 60
UGT1A1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 2 23 7 1 33
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 7 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 7 0 9
OMIM 8 0 0 0 8
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 4 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 1 2 0 5
3billion 2 1 1 0 4
Mendelics 1 2 0 0 3
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 1
Suma Genomics 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1

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