ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) (rs267607196)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000009223 SCV000247655 pathogenic Islet cell hyperplasia 2015-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763231 SCV000893864 likely pathogenic Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia; Diabetes mellitus type 2; Maturity-onset diabetes of the young, type 13 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000009223 SCV000029441 pathogenic Islet cell hyperplasia 2009-07-01 no assertion criteria provided literature only

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