ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1119+6C>T

gnomAD frequency: 0.00015  dbSNP: rs201300786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420138 SCV000525749 likely benign not specified 2016-03-10 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 RCV001088866 SCV000652321 benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734488 SCV000862636 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing

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