ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)

gnomAD frequency: 0.00001  dbSNP: rs1387302006
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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 RCV001495988 SCV001700679 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495752 SCV002796652 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-09-21 criteria provided, single submitter clinical testing

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