ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)

dbSNP: rs111033541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496334 SCV002810884 likely pathogenic Bilirubin, serum level of, quantitative trait locus 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 2021-07-28 criteria provided, single submitter clinical testing
OMIM RCV000013081 SCV000033327 pathogenic Crigler-Najjar syndrome, type II 2003-10-24 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529911 SCV001744214 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529911 SCV001975480 pathogenic not provided no assertion criteria provided clinical testing

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