ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val)

dbSNP: rs797045637
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194466 SCV000247657 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 2 2015-02-09 criteria provided, single submitter clinical testing

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