ClinVar Miner

Submissions for variant NM_001287174.2(ABCC8):c.2117-3C>T (rs1799854)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000144983 SCV000226417 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000144983 SCV000303796 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341582 SCV000369338 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 RCV000396912 SCV000369339 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.
Illumina Clinical Services Laboratory,Illumina RCV000306691 SCV000369340 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.
Athena Diagnostics Inc RCV000576400 SCV000677118 benign not provided 2017-04-30 criteria provided, single submitter clinical testing
Invitae RCV000576400 SCV001720268 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000144983 SCV000192019 likely benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001277198 SCV001464096 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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