ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4746del (p.Pro1583fs)

dbSNP: rs587779746
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114275 SCV000147834 pathogenic Coffin Siris/Intellectual Disability 2013-10-30 criteria provided, single submitter clinical testing

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