ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter) (rs1057518650)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415462 SCV000328709 pathogenic Mental retardation, X-linked 93 2015-02-17 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in BRWD3 (NM_153252.3, c.568C>T) and CHD8 (NM_001170629.1, c.2434C>T) in one individual with reported features of global developmental delay, autism, macrocephaly, mild chiari malformation, regression in speech development, and dysmorphic craniofacial features.

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