ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.765C>T (p.Ile255=)

gnomAD frequency: 0.00008  dbSNP: rs753335564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994577 SCV001148194 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV000994577 SCV001639989 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489487 SCV002795435 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-08-24 criteria provided, single submitter clinical testing

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