ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)

dbSNP: rs1250433233
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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 RCV001442223 SCV001645169 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495618 SCV002796236 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-12-21 criteria provided, single submitter clinical testing

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