ClinVar Miner

Submissions for variant NM_000352.5(ABCC8):c.2506C>T (p.Arg836Ter) (rs72559722)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201895 SCV000612205 pathogenic not provided 2016-06-24 criteria provided, single submitter clinical testing
Counsyl RCV000169276 SCV000220582 likely pathogenic Persistent hyperinsulinemic hypoglycemia of infancy 2014-08-09 criteria provided, single submitter literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000201895 SCV000256810 pathogenic not provided 2015-10-07 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763234 SCV000893867 pathogenic Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Persistent hyperinsulinemic hypoglycemia of infancy; Leucine-induced hypoglycemia; Diabetes mellitus type 2 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000169276 SCV000592993 pathogenic Persistent hyperinsulinemic hypoglycemia of infancy 2016-03-09 criteria provided, single submitter clinical testing

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