ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)

dbSNP: rs368951850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768383 SCV002008987 uncertain significance not provided 2019-08-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002489821 SCV002775754 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-09-29 criteria provided, single submitter clinical testing

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