ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1225A>G (p.Thr409Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555737 SCV005044690 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2022-07-20 criteria provided, single submitter clinical testing ACMG Criteria: PM1, PM2_SUP, PP2, PP3

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