ClinVar Miner

Submissions for variant NM_000352.5(ABCC8):c.1686C>T (p.His562=) (rs1799857)

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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 RCV000576376 SCV000677115 benign Persistent hyperinsulinemic hypoglycemia of infancy 2017-04-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000144979 SCV000192015 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402117 SCV000369365 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302706 SCV000369366 benign Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359236 SCV000369367 benign Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000144979 SCV000303791 benign not specified criteria provided, single submitter clinical testing

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