ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser)

gnomAD frequency: 0.00005  dbSNP: rs1057517139
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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 RCV002480912 SCV002781333 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-05-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279204 SCV001466287 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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