ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6405C>T (p.Phe2135=) (rs148659669)

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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 RCV000176918 SCV000228695 likely benign not specified 2015-05-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000176918 SCV000593547 likely benign not specified 2016-01-14 criteria provided, single submitter clinical testing
Invitae RCV000537397 SCV000639901 benign ATR-X syndrome 2017-10-27 criteria provided, single submitter clinical testing

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