ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)

gnomAD frequency: 0.00002  dbSNP: rs779736828
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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 RCV002132585 SCV002437883 likely benign not provided 2023-09-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486933 SCV002802252 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-07-30 criteria provided, single submitter clinical testing

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