ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)

gnomAD frequency: 0.00002  dbSNP: rs759524625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040552 SCV001204132 benign DYRK1A-related intellectual disability syndrome 2023-12-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001040552 SCV001529725 uncertain significance DYRK1A-related intellectual disability syndrome 2018-06-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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