ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.985-5dup

dbSNP: rs782289893
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507016 SCV000602388 likely benign not specified 2016-11-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000507016 SCV000712056 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing c.985-5_985-4insT in intron 5 of ACTG1: This variant is not expected to have cli nical significance because an insertion of a T nucleotide at this position does not diverge from the splice consensus sequence and is therefore unlikely to impa ct splicing. It has been identified in 5/11572 of Latino chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs78228989 3).
Invitae RCV000650173 SCV000772010 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001764505 SCV001990365 likely benign not provided 2021-10-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000507016 SCV002071624 uncertain significance not specified 2017-10-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551642 SCV004776996 likely benign ACTG1-related disorder 2022-11-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.