ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab,Baylor College of Medicine RCV001269279 SCV001448621 pathogenic ALG12-congenital disorder of glycosylation 2020-11-11 criteria provided, single submitter clinical testing

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