ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2595C>G (p.His865Gln) (rs61752455)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078958 SCV000110823 benign not specified 2013-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078958 SCV000150394 benign not specified 2014-03-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078958 SCV000304466 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514029 SCV000609775 benign not provided 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV000514029 SCV000639874 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514029 SCV000841013 benign not provided 2016-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715129 SCV000845956 benign History of neurodevelopmental disorder 2015-09-23 criteria provided, single submitter clinical testing
ITMI RCV000078958 SCV000084328 not provided not specified 2013-09-19 no assertion provided reference population

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