ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)

dbSNP: rs772520618
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000785971 SCV000996410 uncertain significance Developmental and epileptic encephalopathy, 76 2019-07-28 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Epileptic encephalopathy, early infantile, 76, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PS3-supporting.
Mendelics RCV000785971 SCV002517512 pathogenic Developmental and epileptic encephalopathy, 76 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000785971 SCV000924556 pathogenic Developmental and epileptic encephalopathy, 76 2020-11-25 no assertion criteria provided literature only
CHU Sainte-Justine Research Center, University of Montreal RCV001028076 SCV001190859 likely pathogenic ACTL6B-related recessive epilepsy 2019-03-01 no assertion criteria provided research

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