Submissions for variant NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=)

gnomAD frequency: 0.00050  dbSNP: rs113110833

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425533	SCV000524842	benign	not provided	2020-03-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547376	SCV000651256	benign	DYRK1A-related intellectual disability syndrome	2025-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318441	SCV000849740	likely benign	Inborn genetic diseases	2017-05-31	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.
PreventionGenetics, part of Exact Sciences	RCV004533025	SCV004718271	likely benign	DYRK1A-related disorder	2019-06-11	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).