ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) (rs1799859)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000144994 SCV000229392 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000144994 SCV000303807 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330489 SCV000369266 benign Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389902 SCV000369267 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276828 SCV000369268 benign Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576475 SCV000677121 benign Hyperinsulinemic hypoglycemia, familial, 1 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV001512799 SCV001720264 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533273 SCV001749086 benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000576475 SCV001749087 benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533274 SCV001749088 benign Transient neonatal diabetes mellitus 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533275 SCV001749089 benign Permanent neonatal diabetes mellitus 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001512799 SCV001860503 benign not provided 2018-08-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9799081, 22533711, 10857971, 18758683)
Genetic Services Laboratory, University of Chicago RCV000144994 SCV000192030 likely benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001277186 SCV001464084 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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