ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)

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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 RCV003127735 SCV003804051 pathogenic Autism spectrum disorder 2022-08-05 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255732 SCV001432305 likely pathogenic Intellectual disability, autosomal recessive 13 no assertion criteria provided clinical testing

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