ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)

gnomAD frequency: 0.00001  dbSNP: rs1297237099
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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) RCV000730277 SCV000858003 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing
Invitae RCV000730277 SCV004528569 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535832 SCV004713230 likely benign ABCB4-related disorder 2024-02-02 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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