ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1082T>G (p.Ile361Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002308873 SCV002601105 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004572226 SCV005052912 uncertain significance Familial meningioma 2024-02-11 criteria provided, single submitter clinical testing

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