ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) (rs138125678)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664839 SCV000788857 uncertain significance Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763717 SCV000894601 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

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