ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val)

gnomAD frequency: 0.00001  dbSNP: rs886044683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000386459 SCV000345900 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504027 SCV002814649 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 2022-03-10 criteria provided, single submitter clinical testing

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