ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290311 SCV002580311 likely pathogenic DYRK1A-related intellectual disability syndrome 2021-10-19 criteria provided, single submitter clinical testing

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