ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.218G>A (p.Arg73Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004786130 SCV005401304 uncertain significance not provided 2024-05-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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