ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1472del (p.Leu491fs)

dbSNP: rs2147318790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730128 SCV001976999 pathogenic Developmental and epileptic encephalopathy, 1 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2, PP3

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