ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1132C>T (p.Leu378Phe)

gnomAD frequency: 0.00002  dbSNP: rs200870486
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV003482244 SCV004229769 uncertain significance not provided 2023-08-25 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
GeneReviews RCV000225401 SCV000282477 uncertain significance Autosomal dominant Parkinson disease 8 2014-12-11 no assertion criteria provided literature only

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.