ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.817A>G (p.Ser273Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005050056 SCV005676609 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 2024-03-05 criteria provided, single submitter clinical testing

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