ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) (rs757110)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000144996 SCV000303808 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269263 SCV000369248 benign Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326750 SCV000369249 benign Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388290 SCV000369250 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576686 SCV000677122 benign not provided 2017-04-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000144996 SCV000703631 benign not specified 2017-02-12 criteria provided, single submitter clinical testing
Invitae RCV000576686 SCV001720263 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000144996 SCV000192032 likely benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001277184 SCV001464082 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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