ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.300G>A (p.Ala100=) (rs797045294)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192540 SCV000246556 uncertain significance not specified 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725344 SCV000336185 uncertain significance not provided 2015-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000725344 SCV000976337 likely benign not provided 2018-04-13 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 RCV001089016 SCV001002918 benign Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2019-12-31 criteria provided, single submitter clinical testing

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