ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2193T>G (p.Pro731=)

gnomAD frequency: 0.00007  dbSNP: rs371893470
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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 RCV001505975 SCV001710890 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940881 SCV004747988 likely benign ABCB11-related disorder 2019-06-28 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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