ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.864+1G>C

gnomAD frequency: 0.00006  dbSNP: rs587776764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731416 SCV000859232 pathogenic not provided 2018-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025047 SCV005651549 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 2024-02-16 criteria provided, single submitter clinical testing
OMIM RCV000013068 SCV000033314 pathogenic Crigler-Najjar syndrome type 1 1998-03-01 no assertion criteria provided literature only

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