ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) (rs201405375)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247709 SCV000314716 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000247709 SCV000596699 benign not specified 2016-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719594 SCV000850463 benign History of neurodevelopmental disorder 2019-04-22 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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