ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1893del (p.Gln632fs)

dbSNP: rs2133539303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001536020 SCV001752708 pathogenic Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470855 SCV004200243 pathogenic Type 2 diabetes mellitus 2023-06-28 criteria provided, single submitter clinical testing

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