ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)

dbSNP: rs1554231836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500865 SCV000593407 pathogenic Coffin-Siris syndrome 1 2015-11-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001249528 SCV001423518 pathogenic Intellectual disability 2016-12-01 no assertion criteria provided clinical testing

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