ClinVar Miner

Submissions for variant NM_006908.5(RAC1):c.198A>T (p.Arg66Ser)

dbSNP: rs1783105291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251191 SCV001426577 likely pathogenic Intellectual disability, autosomal dominant 48 criteria provided, single submitter clinical testing
Baylor Genetics RCV001251191 SCV001529844 likely pathogenic Intellectual disability, autosomal dominant 48 2018-04-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003227943 SCV003924843 uncertain significance not provided 2022-11-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32860008)
Daryl Scott Lab, Baylor College of Medicine RCV001251191 SCV004102736 likely pathogenic Intellectual disability, autosomal dominant 48 2023-11-10 criteria provided, single submitter clinical testing

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