ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)

dbSNP: rs762412267
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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 RCV001445410 SCV001648441 likely benign not provided 2023-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476760 SCV002803183 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-08-06 criteria provided, single submitter clinical testing

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