ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter)

dbSNP: rs587776765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005025048 SCV005651540 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 2024-03-06 criteria provided, single submitter clinical testing
OMIM RCV000013069 SCV000033315 pathogenic Crigler-Najjar syndrome type 1 1998-03-01 no assertion criteria provided literature only

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