ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)

gnomAD frequency: 0.00001  dbSNP: rs886044572
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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) RCV000350093 SCV000345507 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059303 SCV002409838 likely benign Sitosterolemia 2024-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949956 SCV004770281 likely benign ABCG5-related disorder 2023-02-15 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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