ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2390+93C>T

gnomAD frequency: 0.70902  dbSNP: rs4148630
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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 RCV001533227 SCV001749023 likely benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533228 SCV001749024 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533229 SCV001749025 likely benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533230 SCV001749026 likely benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001655817 SCV001864651 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002286529 SCV002574778 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 (rs4148630) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002286530 SCV002574779 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 (rs4148630) in neonatal diabetes yet.
Breakthrough Genomics, Breakthrough Genomics RCV001655817 SCV005221372 likely benign not provided criteria provided, single submitter not provided

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