ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.3269G>C (p.Arg1090Pro)

gnomAD frequency: 0.00001  dbSNP: rs573466361
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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 RCV002010684 SCV002291213 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV002010684 SCV002552989 uncertain significance not provided 2022-01-21 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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