ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=)

gnomAD frequency: 0.00001  dbSNP: rs372748919
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698177 SCV000530670 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000542445 SCV000651261 likely benign DYRK1A-related intellectual disability syndrome 2023-07-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821199 SCV002068344 uncertain significance not specified 2018-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418311 SCV002725975 likely benign Inborn genetic diseases 2017-09-21 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 RCV001698177 SCV005435777 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing DYRK1A: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV004539872 SCV004768116 likely benign DYRK1A-related disorder 2019-07-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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