ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1943-7C>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470005 SCV004191191 uncertain significance Schwannomatosis 2 2023-10-30 criteria provided, single submitter clinical testing
GeneDx RCV004775404 SCV005387475 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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