ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2757C>A (p.Thr919=)

gnomAD frequency: 0.00012  dbSNP: rs374465656
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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) RCV000591599 SCV000705750 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591599 SCV001703755 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962695 SCV004792956 likely benign ABCB11-related disorder 2019-02-20 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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