ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.1387G>A (p.Glu463Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797042 SCV005417361 uncertain significance Bilirubin, serum level of, quantitative trait locus 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PP4

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