ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=)

gnomAD frequency: 0.00021  dbSNP: rs143646885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312489 SCV000847084 likely benign Inborn genetic diseases 2016-07-05 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.
Invitae RCV000887492 SCV001031049 likely benign DYRK1A-related intellectual disability syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001576817 SCV001804078 likely benign not provided 2019-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001576817 SCV002064070 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing DYRK1A: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV001816752 SCV002068782 benign not specified 2017-07-21 criteria provided, single submitter clinical testing

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