ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.18C>T (p.Ala6=)

gnomAD frequency: 0.00128  dbSNP: rs145211830
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213239 SCV000269971 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing p.Ala6Ala in exon 2 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.2% (251/ 126672) o f European chromosomes by the Exome Genome Aggregation Database (http://gnomad.b roadinstitute.org/; dbSNP rs145211830).
Invitae RCV000876469 SCV001019044 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001682930 SCV001901997 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000213239 SCV002069301 likely benign not specified 2017-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253297 SCV002524517 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253296 SCV002524518 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001682930 SCV004144626 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ACTG1: BP4, BP7

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.