ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255846 SCV001432470 likely pathogenic DYRK1A-related intellectual disability syndrome no assertion criteria provided clinical testing

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