ClinVar Miner

Submissions for variant NM_000352.5(ABCC8):c.1947G>A (p.Lys649=) (rs1799858)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576654 SCV000677116 benign Persistent hyperinsulinemic hypoglycemia of infancy 2017-04-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000144981 SCV000226016 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000144981 SCV000192017 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378609 SCV000369353 benign Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286519 SCV000369354 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343598 SCV000369355 benign Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000144981 SCV000303793 benign not specified criteria provided, single submitter clinical testing

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