ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.33G>C (p.Leu11=)

dbSNP: rs140821725
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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 RCV002202345 SCV002351219 likely benign Alpha-methylacyl-CoA racemase deficiency 2021-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893160 SCV004711709 likely benign AMACR-related disorder 2022-07-13 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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