ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter)

dbSNP: rs1555980234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760218 SCV000890048 pathogenic DYRK1A-related intellectual disability syndrome 2017-08-18 criteria provided, single submitter clinical testing

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