ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4889del (p.Asp1630fs) (rs1562347066)

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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, RCV000679925 SCV000807356 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 as a de novo finding in a 10-year-old female with global delays, hypotonia, epilepsy, dysmorphic features, structural brain abnormalities, myopia.

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