ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.364G>C (p.Gly122Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004784862 SCV005397068 uncertain significance Low phospholipid associated cholelithiasis 2024-10-28 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2_SUP,PP3

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