ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter)

dbSNP: rs1558898789
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761413 SCV000891471 pathogenic Progressive familial intrahepatic cholestasis type 2 2017-12-30 criteria provided, single submitter curation

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