ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.822+3C>T

gnomAD frequency: 0.00003  dbSNP: rs370697909
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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 RCV002253795 SCV002522631 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 ( rs370697909) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002253794 SCV002522632 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 ( rs370697909) in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002480911 SCV002789458 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279203 SCV001466286 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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