ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) (rs138332224)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118110 SCV000152442 benign not specified 2018-07-10 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224687 SCV000280911 likely benign not provided 2015-11-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000719652 SCV000850522 benign History of neurodevelopmental disorder 2016-11-17 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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