ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.383G>A (p.Arg128His)

gnomAD frequency: 0.00066  dbSNP: rs181533618
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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) RCV000597418 SCV000709603 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597418 SCV002321096 likely benign not provided 2024-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000597418 SCV004183793 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ABCB11: BP4
PreventionGenetics, part of Exact Sciences RCV003980121 SCV004787106 likely benign ABCB11-related disorder 2023-09-11 no assertion criteria provided 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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