ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)

dbSNP: rs1562848909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000785973 SCV000996407 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, PP3, PS3-Moderate, PM3.
OMIM RCV000785973 SCV000924558 pathogenic Developmental and epileptic encephalopathy, 76 2020-11-25 no assertion criteria provided literature only
CHU Sainte-Justine Research Center, University of Montreal RCV001028089 SCV001190872 likely pathogenic ACTL6B-related recessive epilepsy 2019-03-01 no assertion criteria provided research

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