ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)

dbSNP: rs543286136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227263 SCV002506491 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of this particular variant (rs543286136) in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002486030 SCV002777065 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 2022-02-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277856 SCV001464835 uncertain significance Permanent neonatal diabetes mellitus 2020-10-29 no assertion criteria provided clinical testing

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