ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter) (rs1554256703)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624037 SCV000740838 pathogenic Inborn genetic diseases 2015-02-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Baylor Miraca Genetics Laboratories, RCV000679918 SCV000807349 pathogenic Coffin-Siris syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This nonsense 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 5-year-old male with global delays, laryngomalacia, hypotonia, absent speech, minor dysmorphic features.

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