ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) (rs398123423)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150063 SCV000110826 benign not specified 2013-12-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000150063 SCV000150391 benign not specified 2016-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000150063 SCV000570369 likely benign not specified 2017-01-05 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.
Invitae RCV000640852 SCV000762453 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715760 SCV000846591 benign History of neurodevelopmental disorder 2017-08-02 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Other data supporting benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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