ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr)

gnomAD frequency: 0.00138  dbSNP: rs116809051
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087975 SCV000654904 likely benign Nemaline myopathy 9 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000832818 SCV000974574 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980020 SCV004794391 benign KLHL41-related condition 2019-06-28 criteria provided, single submitter 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.