ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2490G>A (p.Arg830=)

gnomAD frequency: 0.00001  dbSNP: rs775663263
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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) RCV000729562 SCV000857235 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729562 SCV002376688 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980370 SCV004786333 likely benign ABCB11-related disorder 2022-11-07 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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