ClinVar Miner

Submissions for variant NM_006908.5(RAC1):c.212C>T (p.Ser71Phe)

dbSNP: rs2115201430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249146 SCV002517385 likely pathogenic Intellectual disability, autosomal dominant 48 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV003128850 SCV003805800 pathogenic not provided 2023-02-21 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; This variant is associated with the following publications: (PMID: 26176707)

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