ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3593T>A (p.Leu1198Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005048084 SCV005674274 likely pathogenic Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 2024-01-05 criteria provided, single submitter clinical testing

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