ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser)

gnomAD frequency: 0.00011  dbSNP: rs370090236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000348174 SCV000341428 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Invitae RCV000800855 SCV000940595 benign DYRK1A-related intellectual disability syndrome 2023-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518988 SCV003698121 likely benign Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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