ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4119+93G>T

gnomAD frequency: 0.21307  dbSNP: rs4148644
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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 RCV001533264 SCV001749075 likely benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533265 SCV001749076 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533266 SCV001749077 likely benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533267 SCV001749078 likely benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001615252 SCV001833818 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002285180 SCV002574764 benign 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 ( rs4148644) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002285181 SCV002574773 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 (rs4148644) in neonatal diabetes yet.
Breakthrough Genomics, Breakthrough Genomics RCV001615252 SCV005221363 likely benign not provided criteria provided, single submitter not provided

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