ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)

gnomAD frequency: 0.00155  dbSNP: rs45596335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180161 SCV000232551 likely benign not specified 2016-12-06 criteria provided, single submitter clinical testing
GeneDx RCV003329254 SCV004036894 uncertain significance not provided 2023-09-21 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003329254 SCV004327806 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537504 SCV004752849 likely benign ABCB4-related disorder 2021-04-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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