ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.477A>G (p.Gln159=)

gnomAD frequency: 0.00024  dbSNP: rs191042013
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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) RCV000727348 SCV000707773 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000596910 SCV000725541 likely benign not specified 2017-12-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003927936 SCV004743809 likely benign ABCB11-related condition 2019-03-06 criteria provided, single submitter 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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