ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1568C>T (p.Thr523Met)

gnomAD frequency: 0.00005  dbSNP: rs148756105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649326 SCV000771153 likely benign DYRK1A-related intellectual disability syndrome 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001796167 SCV002032492 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing

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