ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.1083C>T (p.Arg361=)

gnomAD frequency: 0.00004  dbSNP: rs561675407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730987 SCV000858757 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001489261 SCV001693799 likely benign Alpha-methylacyl-CoA racemase deficiency 2025-01-27 criteria provided, single submitter clinical testing

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