ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1604C>A (p.Ala535Asp)

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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 RCV003989922 SCV004806009 likely pathogenic Progressive familial intrahepatic cholestasis type 2 2024-03-25 criteria provided, single submitter clinical testing

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