ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu)

gnomAD frequency: 0.00002  dbSNP: rs756424776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822199 SCV002069714 uncertain significance not specified 2018-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489866 SCV002775268 uncertain significance Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2 2022-01-18 criteria provided, single submitter clinical testing

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