ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) (rs140777637)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116416 SCV000150340 uncertain significance not provided 2013-06-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594671 SCV000703143 likely benign not specified 2016-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000594671 SCV000724690 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000720873 SCV000851757 likely benign History of neurodevelopmental disorder 2014-11-24 criteria provided, single submitter clinical testing
Invitae RCV001086909 SCV001004768 benign Early infantile epileptic encephalopathy 8 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000116416 SCV001150327 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing

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