ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)

gnomAD frequency: 0.00001  dbSNP: rs1562848556
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853486 SCV000996413 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.
Revvity Omics, Revvity Omics RCV001785744 SCV002021293 likely pathogenic not provided 2021-01-07 criteria provided, single submitter clinical testing
CHU Sainte-Justine Research Center, University of Montreal RCV001028083 SCV001190866 likely pathogenic ACTL6B-related recessive epilepsy 2019-03-01 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.