ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1853G>A (p.Arg618Gln)

gnomAD frequency: 0.00003  dbSNP: rs761460441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327008 SCV001518066 benign DYRK1A-related intellectual disability syndrome 2023-08-01 criteria provided, single submitter clinical testing
GeneDx RCV002225825 SCV002504512 likely benign not provided 2020-05-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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