ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.4628G>A (p.Gly1543Glu)

dbSNP: rs2100519683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767890 SCV001999711 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001767890 SCV003034384 likely benign not provided 2024-06-26 criteria provided, single submitter clinical testing

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