ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005046505 SCV005676610 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 2024-02-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV005618434 SCV006294362 uncertain significance Permanent neonatal diabetes mellitus 2025-04-22 no assertion criteria provided clinical testing

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