ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3988+19G>C

dbSNP: rs576340695
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246151 SCV002513519 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 (rs576340695) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246152 SCV002513520 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 (rs576340695) in neonatal diabetes yet.
Fulgent Genetics, Fulgent Genetics RCV002499466 SCV002813485 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003738031 SCV004557900 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277867 SCV001464846 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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