Submissions for variant NM_000352.6(ABCC8):c.2117-3C>T

gnomAD frequency: 0.36733  dbSNP: rs1799854

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000144983	SCV000226417	benign	not specified	2014-11-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000144983	SCV000303796	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000341582	SCV000369338	benign	Diabetes mellitus, transient neonatal, 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 Laboratory Services, 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 Laboratory Services, 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	RCV000576400	SCV000677118	benign	not provided	2017-04-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576400	SCV001720268	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533235	SCV001749031	benign	Leucine-induced hypoglycemia	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000396912	SCV001749048	benign	Hyperinsulinemic hypoglycemia, familial, 1	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000341582	SCV001749049	benign	Diabetes mellitus, transient neonatal, 2	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533245	SCV001749050	benign	Diabetes mellitus, permanent neonatal 3	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000576400	SCV001855636	benign	not provided	2018-09-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26740944, 29469970, 16429405, 15807877, 8635661, 25525159, 22533711, 10333056, 10857971, 20079163)
Fulgent Genetics, Fulgent Genetics	RCV002498655	SCV002807042	benign	Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3	2022-05-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000576400	SCV005323572	benign	not provided		criteria provided, single submitter	not provided
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
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002221499	SCV002498765	association	Type 2 diabetes mellitus		no assertion criteria provided	research	Mutations in this gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation have a better response to sulfonylureas.