ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)

dbSNP: rs1845968579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332590 SCV001524964 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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