ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe)

gnomAD frequency: 0.00001  dbSNP: rs1278920115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817447 SCV002068288 uncertain significance not specified 2018-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482355 SCV002787815 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-12-15 criteria provided, single submitter clinical testing

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