ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)

gnomAD frequency: 0.00010  dbSNP: rs199541853
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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 RCV001404554 SCV001606456 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499862 SCV002811879 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-11-18 criteria provided, single submitter clinical testing

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