ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)

dbSNP: rs1570623881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027697 SCV001190272 likely pathogenic Exercise-induced hyperinsulinism 2019-07-25 criteria provided, single submitter clinical testing

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