ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)

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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 RCV002289115 SCV002581576 pathogenic DYRK1A-related intellectual disability syndrome 2022-08-29 criteria provided, single submitter clinical testing

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