ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2616C>T (p.Ala872=)

gnomAD frequency: 0.00006  dbSNP: rs528640585
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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) RCV000732798 SCV000860784 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732798 SCV001709101 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947946 SCV004768586 likely benign ABCB11-related disorder 2022-03-01 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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