ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003993559 SCV004809530 likely pathogenic Cholestasis, intrahepatic, of pregnancy, 3 2024-04-04 criteria provided, single submitter clinical testing

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