ClinVar Miner

Submissions for variant NM_006924.5(SRSF1):c.70C>T (p.Pro24Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127351 SCV003803919 uncertain significance Autism spectrum disorder 2021-08-16 criteria provided, single submitter clinical testing
GeneDx RCV004763596 SCV005373113 uncertain significance not provided 2023-08-02 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

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