ClinVar Miner

Submissions for variant NM_005273.4(GNB2):c.284T>C (p.Leu95Pro)

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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 Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127321 SCV003803883 likely pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2022-08-12 criteria provided, single submitter clinical testing

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