ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)

gnomAD frequency: 0.00001  dbSNP: rs767123465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336813 SCV001530310 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2018-08-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV005050338 SCV005676299 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-01-20 criteria provided, single submitter clinical testing

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