ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1698A>C (p.Thr566=)

gnomAD frequency: 0.00002  dbSNP: rs375157979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718930 SCV000721749 likely benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Invitae RCV001422298 SCV001624841 likely benign DYRK1A-related intellectual disability syndrome 2023-02-28 criteria provided, single submitter clinical testing

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