ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1821G>C (p.Trp607Cys) (rs1057518700)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000414856 SCV000328806 likely pathogenic Mental retardation, autosomal dominant 6 2015-03-13 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GRIN2B (NM_000834.3, c.1821G>C) and SHOX (NM_000451.3, c.544+1G>A) in a single individual who has features which include delayed motor milestones, delayed speech, intellectual disability, hypotonia, short stature, reflexes at knees and ankles, failure to thrive, seborrheic dermatitis, and unilateral testicle atrophy.

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