Submissions for variant NM_000352.6(ABCC8):c.2820+17A>G

gnomAD frequency: 0.62022  dbSNP: rs2106865

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000144989	SCV000303801	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576868	SCV000677120	benign	not provided	2017-04-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576868	SCV001729170	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533276	SCV001749090	benign	Leucine-induced hypoglycemia	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533277	SCV001749091	benign	Hyperinsulinemic hypoglycemia, familial, 1	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533278	SCV001749092	benign	Diabetes mellitus, transient neonatal, 2	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533279	SCV001749093	benign	Diabetes mellitus, permanent neonatal 3	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000576868	SCV001857809	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002273961	SCV002521952	uncertain significance	Transitory neonatal diabetes mellitus		criteria provided, single submitter	research	Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs2106865) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002251435	SCV002521953	uncertain significance	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs2106865) in MODY yet.
Genetic Services Laboratory, University of Chicago	RCV000144989	SCV000192025	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000144989	SCV001741771	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000144989	SCV001952673	benign	not specified		no assertion criteria provided	clinical testing