ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.1044G>A (p.Ser348=)

gnomAD frequency: 0.00019  dbSNP: rs13447409
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000642203 SCV000521684 benign not provided 2018-10-29 criteria provided, single submitter clinical testing
Invitae RCV001088660 SCV000763857 benign Baraitser-Winter syndrome 1 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000642203 SCV001142912 benign not provided 2018-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088660 SCV002524373 benign Baraitser-Winter syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253433 SCV002524374 benign Developmental malformations-deafness-dystonia syndrome 2021-12-05 criteria provided, single submitter clinical testing

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.