ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp)

gnomAD frequency: 0.00001  dbSNP: rs760957728
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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 RCV001207071 SCV001378410 benign DYRK1A-related intellectual disability syndrome 2024-08-12 criteria provided, single submitter clinical testing
GeneDx RCV002286820 SCV002577160 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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