ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)

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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 Human Genetics, University Hospital Magdeburg RCV001250765 SCV001426176 pathogenic Noonan syndrome 9 2020-07-02 criteria provided, single submitter clinical testing This variant was identified de novo (PM2). It is absent from gnomAD (PM2). Variants at the analogous position in SOS1 (c.797C>A and c.796_797delinsTT) have been classified as pathogenic (PM5_Strong).
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001251213 SCV001426699 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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