ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=)

gnomAD frequency: 0.00041  dbSNP: rs1049764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720153 SCV000522661 benign not provided 2019-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530714 SCV000651266 likely benign DYRK1A-related intellectual disability syndrome 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318419 SCV000851471 likely benign Inborn genetic diseases 2017-01-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV001720153 SCV004153637 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing DYRK1A: BP4, BP7

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