ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.345C>T (p.Asn115=)

gnomAD frequency: 0.00021  dbSNP: rs149057480
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600884 SCV000712410 likely benign not specified 2016-08-23 criteria provided, single submitter clinical testing p.Asn115Asn in exon 3 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 21/66260 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs149057480).
GeneDx RCV001722546 SCV000728871 benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Invitae RCV000952118 SCV001098593 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253519 SCV002524488 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253518 SCV002524489 benign Autosomal dominant nonsyndromic hearing loss 20 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.