ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)

gnomAD frequency: 0.00001  dbSNP: rs114613745
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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 RCV001822838 SCV002072106 uncertain significance not specified 2017-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478061 SCV002778899 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 2021-12-15 criteria provided, single submitter clinical testing

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