ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)

dbSNP: rs1953794808
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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 RCV002091256 SCV002388440 likely benign not provided 2021-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494184 SCV002801202 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-05-13 criteria provided, single submitter clinical testing

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