ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)

gnomAD frequency: 0.00017  dbSNP: rs186634115
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194603 SCV000246295 uncertain significance not specified 2015-07-17 criteria provided, single submitter clinical testing
Invitae RCV000928929 SCV001074551 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002250592 SCV002520728 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 (rs186634115) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002250591 SCV002520729 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 (rs186634115) in MODY yet.
Natera, Inc. RCV001274294 SCV001458266 likely benign Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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