ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) (rs752507753)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675066 SCV000800538 uncertain significance Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia 2017-05-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193401 SCV000247653 likely pathogenic Islet cell hyperplasia 2015-02-24 criteria provided, single submitter clinical testing

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