ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)

dbSNP: rs755138493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Houlden Lab, UCL Institute of Neurology RCV001027972 SCV003920673 pathogenic Developmental and epileptic encephalopathy, 76 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001027972 SCV001190719 likely pathogenic Developmental and epileptic encephalopathy, 76 2020-02-05 no assertion criteria provided clinical testing

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