ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2222+12A>G

gnomAD frequency: 0.00006  dbSNP: rs534103042
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251581 SCV002522236 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 (rs534103042) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251582 SCV002522237 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 (rs534103042) in neonatal diabetes yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV002542895 SCV003520776 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278412 SCV001465425 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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