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
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
Houlden Lab, UCL Institute of Neurology RCV001027972 SCV003920673 pathogenic Developmental and epileptic encephalopathy, 76 no assertion criteria provided research

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