ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.1032T>G (p.Pro344=)

gnomAD frequency: 0.00001  dbSNP: rs1189329151
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002149980 SCV002411158 likely benign Alpha-methylacyl-CoA racemase deficiency 2022-10-13 criteria provided, single submitter clinical testing

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