ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)

dbSNP: rs774325551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760682 SCV001990413 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488554 SCV002782135 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2021-12-08 criteria provided, single submitter clinical testing

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