ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)

dbSNP: rs199734111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594793 SCV000708061 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333042 SCV001525523 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2019-12-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001333042 SCV001676943 likely benign Alpha-methylacyl-CoA racemase deficiency 2023-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935621 SCV004755860 likely benign AMACR-related disorder 2022-09-14 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).

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