ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.223T>G (p.Phe75Val)

gnomAD frequency: 0.00005  dbSNP: rs999545482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440603 SCV000511327 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000466760 SCV000551641 benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623849 SCV000741104 uncertain significance Inborn genetic diseases 2015-10-07 criteria provided, single submitter clinical testing
GeneDx RCV000440603 SCV001771208 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing

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