ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.798_800delinsCAA (p.Glu266_Met267delinsAspLys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, University Hospital Magdeburg RCV001250767 SCV001426178 likely pathogenic Noonan syndrome 9 2020-07-02 criteria provided, single submitter clinical testing This variant is absent from gnomAD (PM2). Variants at the analogous position in SOS1 (c.806T>G and c.806T>C) have been classified as pathogenic (PM5_Strong).

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