ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.1425G>A (p.Ala475=)

dbSNP: rs369028190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193772 SCV000246431 uncertain significance not specified 2015-02-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004725041 SCV005330006 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing AP4E1: BP4, BP7

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