ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.243C>T (p.Arg81=)

dbSNP: rs780748531
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734161 SCV000862283 uncertain significance not provided 2018-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535369 SCV003519370 likely benign Alpha-methylacyl-CoA racemase deficiency 2023-12-14 criteria provided, single submitter clinical testing

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