ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)

dbSNP: rs929755522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853481 SCV000996405 likely pathogenic Developmental and epileptic encephalopathy, 76 2019-07-28 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Epileptic encephalopathy, early infantile, 76, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1-Strong.
CHU Sainte-Justine Research Center, University of Montreal RCV001028086 SCV001190869 likely pathogenic ACTL6B-related recessive epilepsy 2019-03-01 no assertion criteria provided research

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