ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.2504T>A (p.Leu835Gln)

dbSNP: rs2123460032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763057 SCV001989154 uncertain significance not provided 2019-09-23 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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