ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)

gnomAD frequency: 0.00008  dbSNP: rs368458295
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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) RCV000260404 SCV000340943 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
Invitae RCV000260404 SCV004532551 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543101 SCV004769419 likely benign ABCB4-related disorder 2019-12-16 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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