ClinVar Miner

Variants studied for Crigler-Najjar syndrome, type II

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 total
13 5 4 0 0 20

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 12 5 4 19
UGT1A1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 8 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 1 2 5
Mendelics 1 2 0 3
3billion, Medical Genetics 2 0 1 3
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 1

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