ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3753+1G>A

dbSNP: rs1554906786
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667451 SCV000791897 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2017-05-31 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246130 SCV002513779 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 (rs1554906786) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246131 SCV002513781 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 (rs1554906786) in neonatal diabetes yet.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002284423 SCV002573716 pathogenic Hypoglycemia criteria provided, single submitter clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV003446300 SCV004174090 pathogenic Diabetes mellitus, transient neonatal, 2 no assertion criteria provided clinical testing

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