ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.3481C>G (p.Arg1161Gly)

gnomAD frequency: 0.00003  dbSNP: rs202197441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034346 SCV001197687 benign not provided 2024-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001034346 SCV002064198 uncertain significance not provided 2022-01-13 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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