ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1272G>A (p.Pro424=)

gnomAD frequency: 0.00002  dbSNP: rs398124507
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723583 SCV000114641 uncertain significance not provided 2013-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000082599 SCV000534900 likely benign not specified 2017-11-30 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.
Genetic Services Laboratory, University of Chicago RCV000082599 SCV000593422 likely benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Invitae RCV001366119 SCV001562411 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-10-22 criteria provided, single submitter clinical testing

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