ClinVar Miner

Submissions for variant NM_000352.5(ABCC8):c.2485C>T (p.Leu829=) (rs1805036)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576603 SCV000677119 benign Persistent hyperinsulinemic hypoglycemia of infancy 2017-04-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000144986 SCV000192022 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304886 SCV000369323 benign Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364184 SCV000369324 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269562 SCV000369325 benign Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000144986 SCV000303799 benign not specified criteria provided, single submitter clinical testing

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