ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2390+123C>T

gnomAD frequency: 0.70926  dbSNP: rs4148631
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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 RCV001533223 SCV001749019 likely benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533224 SCV001749020 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533225 SCV001749021 likely benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533226 SCV001749022 likely benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001615251 SCV001836828 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002285178 SCV002574776 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 (rs4148631) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002285179 SCV002574777 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 (rs4148631) in neonatal diabetes yet.
Breakthrough Genomics, Breakthrough Genomics RCV001615251 SCV005221371 likely benign not provided criteria provided, single submitter not provided

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