ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.774G>A (p.Pro258=) (rs61997068)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221687 SCV000269976 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing p.Pro258Pro in exon 4 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 65/65542 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs61997068).
Invitae RCV001078583 SCV001015831 benign Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000873773 SCV001142906 benign not provided 2018-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000873773 SCV001843755 benign not provided 2019-10-09 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.