ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1074C>T (p.Ser358=)

gnomAD frequency: 0.00025  dbSNP: rs143638615
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 RCV001704509 SCV000532823 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Invitae RCV000652717 SCV000774588 likely benign Combined oxidative phosphorylation defect type 27 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704509 SCV004135664 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CARS2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902607 SCV004718279 likely benign CARS2-related disorder 2019-12-09 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.