ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.973C>A (p.Arg325Ser) (rs550315112)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502356 SCV000595314 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763718 SCV000894602 uncertain significance Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young, type 13 2018-10-31 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573273 SCV001798878 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573273 SCV001808248 uncertain significance not provided no assertion criteria provided clinical testing

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