ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1261C>G (p.Leu421Val)

gnomAD frequency: 0.00375  dbSNP: rs34790864
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
Invitae RCV000650156 SCV000771993 benign Usher syndrome type 3B 2024-01-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825071 SCV000966303 benign not specified 2019-01-03 criteria provided, single submitter clinical testing The p.Leu421Val variant in HARS is classified as benign because it has been iden tified in 1.2% (307/24962) of African chromosomes by gnomAD (http://gnomad.broad institute.org). ACMG/AMP criteria applied: BA1.
GeneDx RCV001592815 SCV001823938 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001592815 SCV004700839 benign not provided 2023-12-01 criteria provided, single submitter clinical testing HARS1: BS1, BS2

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.