ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.300del (p.Phe100fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133071 SCV003814136 likely pathogenic not provided 2022-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021819 SCV005651541 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 2024-04-08 criteria provided, single submitter clinical testing

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