ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.366A>G (p.Gly122=)

gnomAD frequency: 0.00016  dbSNP: rs113445400
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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) RCV000594939 SCV000708024 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594939 SCV004535970 likely benign not provided 2023-12-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000594939 SCV005195855 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004730990 SCV005336425 likely benign ABCB4-related disorder 2024-07-12 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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