ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) (rs1799858)

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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 RCV000144981 SCV000226016 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000144981 SCV000303793 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378609 SCV000369353 benign Transient neonatal diabetes mellitus 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000286519 SCV000369354 benign Permanent neonatal diabetes mellitus 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000576654 SCV000369355 benign Hyperinsulinemic hypoglycemia, familial, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics Inc RCV000576654 SCV000677116 benign Hyperinsulinemic hypoglycemia, familial, 1 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV001512802 SCV001720269 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533246 SCV001749051 benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000576654 SCV001749052 benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000378609 SCV001749053 benign Transient neonatal diabetes mellitus 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533247 SCV001749054 benign Permanent neonatal diabetes mellitus 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001512802 SCV001900670 benign not provided 2018-08-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14551916)
Genetic Services Laboratory, University of Chicago RCV000144981 SCV000192017 likely benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001272235 SCV001454037 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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