ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.925-19A>G

gnomAD frequency: 0.00136  dbSNP: rs78428152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438579 SCV000526398 likely benign not specified 2018-01-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002058997 SCV002487398 benign DYRK1A-related intellectual disability syndrome 2024-01-10 criteria provided, single submitter clinical testing

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