ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1204A>G (p.Ile402Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002469749 SCV002765603 uncertain significance not provided 2022-06-17 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; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Baylor Genetics RCV003465771 SCV004193677 uncertain significance Schwannomatosis 2 2023-04-11 criteria provided, single submitter clinical testing

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