ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.558T>C (p.His186=)

dbSNP: rs1953583830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069486 SCV002330049 likely benign not provided 2023-02-08 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226775 SCV002505487 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 is responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs1953583830 variant in Diabetes Mellitus yet.
Natera, Inc. RCV001280340 SCV001467516 uncertain significance Permanent neonatal diabetes mellitus 2020-08-13 no assertion criteria provided clinical testing

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