ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.3025C>T (p.Arg1009Trp)

dbSNP: rs758634485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003152158 SCV003840581 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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