ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3399+1G>A

dbSNP: rs1554911369
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669304 SCV000794046 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2017-11-14 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245556 SCV002515476 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 ( rs1554911369) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245555 SCV002515477 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 ( rs1554911369) in MODY yet.
Baylor Genetics RCV003472114 SCV004201446 likely pathogenic Type 2 diabetes mellitus 2023-04-17 criteria provided, single submitter clinical testing

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