ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2634C>T (p.Asp878=)

gnomAD frequency: 0.00002  dbSNP: rs754554936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487806 SCV001692303 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506564 SCV002801140 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-01-12 criteria provided, single submitter clinical testing

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