ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991149 SCV004808469 uncertain significance DYRK1A-related intellectual disability syndrome 2023-07-17 criteria provided, single submitter clinical testing ACMG Criteria: PP3_MOD,PM2_SUP,PP2
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003991149 SCV005418602 likely pathogenic DYRK1A-related intellectual disability syndrome criteria provided, single submitter clinical testing PM2_Supporting+PS2_Moderate+PP2+PP3+PP4

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