ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.945G>A (p.Ala315=)

dbSNP: rs1310022652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659147 SCV000780962 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767904 SCV004579338 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-12-12 criteria provided, single submitter clinical testing

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