ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1999-5del (rs769940455)

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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 RCV000194733 SCV000248824 uncertain significance not specified 2014-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715216 SCV000846044 likely benign History of neurodevelopmental disorder 2018-11-02 criteria provided, single submitter clinical testing Other data supporting benign classification

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