ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1740A>T (p.Leu580Phe)

gnomAD frequency: 0.00132  dbSNP: rs145906734
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
GeneDx RCV001638974 SCV001848281 benign not provided 2020-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072958 SCV002337369 benign Autosomal dominant Parkinson disease 8 2024-08-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638974 SCV005229995 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004752028 SCV005363086 benign LRRK2-related disorder 2024-08-09 no assertion criteria provided clinical testing This variant is classified as 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.