ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.240G>A (p.Glu80=)

gnomAD frequency: 0.00001  dbSNP: rs8187787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000268204 SCV000341879 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV000268204 SCV004511195 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535403 SCV004723589 likely benign ABCB4-related disorder 2021-11-11 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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