ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.2699T>C (p.Ile900Thr)

dbSNP: rs1562955080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734603 SCV000862757 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000734603 SCV004028347 uncertain significance not provided 2023-02-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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