ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.23G>A (p.Gly8Asp)

dbSNP: rs993238320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560270 SCV001782646 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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