ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg)

dbSNP: rs797044525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000190484 SCV000206792 likely pathogenic DYRK1A-related intellectual disability syndrome 2014-09-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000190484 SCV000807304 uncertain significance DYRK1A-related intellectual disability syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 7-year-old female with severe intellectual disability, dysmorphic features, short stature, microcephaly, premature thelarche, and unilateral renal agenesis

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