ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu)

dbSNP: rs201958918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435667 SCV000525413 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Invitae RCV001055184 SCV001219559 benign DYRK1A-related intellectual disability syndrome 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418283 SCV002724796 likely benign Inborn genetic diseases 2018-04-09 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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