ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.126C>T (p.Gly42=)

gnomAD frequency: 0.00003  dbSNP: rs138800291
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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) RCV000729747 SCV000857434 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729747 SCV001066528 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892621 SCV004711617 likely benign ABCB11-related disorder 2021-08-02 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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