ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.522G>T (p.Ser174=)

dbSNP: rs2048711689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562041 SCV001784747 likely benign not provided 2018-11-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16235064)
Labcorp Genetics (formerly Invitae), Labcorp RCV003771718 SCV004579301 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-21 criteria provided, single submitter clinical testing

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