ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) (rs587780288)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116467 SCV000226230 uncertain significance not provided 2014-08-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116467 SCV000150398 uncertain significance not provided 2013-11-13 criteria provided, single submitter clinical testing
Invitae RCV000640859 SCV000762460 likely benign ATR-X syndrome 2017-12-08 criteria provided, single submitter clinical testing

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