ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3669G>A (p.Glu1223=)

dbSNP: rs199649780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002139077 SCV002469655 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003984234 SCV004797974 likely benign ABCB11-related disorder 2021-09-15 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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