ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)

dbSNP: rs1556358991
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000656417 SCV000778427 pathogenic Developmental and epileptic encephalopathy, 8 2017-05-31 criteria provided, single submitter clinical testing

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