ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4120-27T>C

gnomAD frequency: 0.45032  dbSNP: rs739689
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001533260 SCV001749071 benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533261 SCV001749072 benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533262 SCV001749073 benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533263 SCV001749074 benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001682843 SCV001905012 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002243802 SCV002513469 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 (rs739689) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002243803 SCV002513470 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 (rs739689 ) in neonatal diabetes yet.
Genetic Services Laboratory, University of Chicago RCV000144998 SCV000192034 likely benign not specified no assertion criteria provided clinical testing

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