ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.204T>A (p.Arg68=)

gnomAD frequency: 0.00005  dbSNP: rs1057472198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002060838 SCV002325042 likely benign Alpha-methylacyl-CoA racemase deficiency 2023-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892524 SCV004717422 likely benign AMACR-related disorder 2021-03-09 criteria provided, single submitter 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000676070 SCV000801805 likely benign not provided 2018-02-20 no assertion criteria provided clinical testing

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