ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs)

dbSNP: rs2482358615
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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 RCV003127381 SCV003803953 likely pathogenic Intellectual developmental disorder, autosomal dominant 64 2022-04-20 criteria provided, single submitter clinical testing

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