ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.638-14_638-13del

dbSNP: rs1029281009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002091864 SCV002433462 likely benign DYRK1A-related intellectual disability syndrome 2022-05-30 criteria provided, single submitter clinical testing
GeneDx RCV003443008 SCV004167936 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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