ClinVar Miner

Submissions for variant NM_001396.3(DYRK1A):c.734T>G (p.Leu245Arg) (rs797044525)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000190484 SCV000807304 uncertain significance Mental retardation, autosomal dominant 7 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
UCLA Clinical Genomics Center, UCLA RCV000190484 SCV000206792 likely pathogenic Mental retardation, autosomal dominant 7 2014-09-15 criteria provided, single submitter clinical testing

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