ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225818 SCV003807469 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2022-11-18 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting, PP4

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