ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.803C>T (p.Ala268Val)

gnomAD frequency: 0.00001  dbSNP: rs1469221964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033985 SCV001197309 likely benign DYRK1A-related intellectual disability syndrome 2022-11-09 criteria provided, single submitter clinical testing
GeneDx RCV001772202 SCV001993925 uncertain significance not provided 2021-10-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25641759)

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