ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003457507 SCV004185459 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ABCB4: BP4
Mayo Clinic Laboratories, Mayo Clinic RCV003457507 SCV004224022 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV004536821 SCV004747251 likely benign ABCB4-related disorder 2022-08-22 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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