ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.1304+1G>T

dbSNP: rs2126038220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246803 SCV002519938 pathogenic Gilbert syndrome 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017162 SCV005651559 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 2024-02-07 criteria provided, single submitter clinical testing

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