ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.714C>G (p.Pro238=)

gnomAD frequency: 0.00001  dbSNP: rs200824585
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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) RCV000734122 SCV000862238 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061019 SCV002451099 likely benign Alpha-methylacyl-CoA racemase deficiency 2024-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955475 SCV004768193 likely benign AMACR-related disorder 2020-02-14 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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