ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.5432G>A (p.Arg1811His)

dbSNP: rs751393552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761088 SCV001998652 uncertain significance not provided 2020-01-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26490311)
Labcorp Genetics (formerly Invitae), Labcorp RCV001761088 SCV003245434 benign not provided 2023-08-10 criteria provided, single submitter clinical testing

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