ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.72G>A (p.Val24=)

gnomAD frequency: 0.00002  dbSNP: rs764918207
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499372 SCV000597833 likely benign not specified 2016-06-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496961 SCV002804462 likely benign Bilirubin, serum level of, quantitative trait locus 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 2022-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737579 SCV005353517 likely benign UGT1A1-related disorder 2024-04-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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