ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1039T>G (p.Phe347Val)

dbSNP: rs1556054888
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585827 SCV000693791 likely pathogenic Developmental and epileptic encephalopathy, 1 2018-01-01 criteria provided, single submitter clinical testing

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