ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser)

gnomAD frequency: 0.00007  dbSNP: rs147973077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559202 SCV000651265 benign DYRK1A-related intellectual disability syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001722507 SCV000715715 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing

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