ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) (rs34993780)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147900 SCV000195391 pathogenic Hyperbilirubinemia 2014-04-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763480 SCV000894263 likely pathogenic Bilirubin, serum level of, quantitative trait locus 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert's syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000013073 SCV000033319 pathogenic Lucey-Driscoll syndrome 2007-12-01 no assertion criteria provided literature only
OMIM RCV000013074 SCV000033320 pathogenic Crigler-Najjar syndrome, type II 2007-12-01 no assertion criteria provided literature only
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University RCV000999563 SCV001156259 pathogenic Gilbert's syndrome 2019-05-01 no assertion criteria provided case-control

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