ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.126C>T (p.Gly42=)

gnomAD frequency: 0.00029  dbSNP: rs11549197
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420872 SCV000516400 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825693 SCV000967134 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly42Gly in Exon 03 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2/7018 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs11549197).
Invitae RCV001082075 SCV001015577 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-12-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000420872 SCV001142900 benign not provided 2019-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253424 SCV002524499 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253423 SCV002524500 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000420872 SCV004010582 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ACTG1: BP4, BP7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000420872 SCV001959474 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000420872 SCV001969137 likely benign not provided no assertion criteria provided 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.