ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3548del (p.Pro1183fs) (rs1562331655)

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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, RCV000679921 SCV000807352 pathogenic Coffin-Siris syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in a 12-year-old female with intellectual disability, regression, autism spectrum, hearing loss, dysmorphic features, short stature, hypoplastic corpus callosum.

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