ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.447C>T (p.Ala149=)

gnomAD frequency: 0.00074  dbSNP: rs138852341
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
Athena Diagnostics Inc RCV000557865 SCV000613928 benign not provided 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001089390 SCV000654254 benign Nemaline myopathy 8 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000516777 SCV000717370 likely benign not specified 2017-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003905302 SCV004724654 likely benign KLHL40-related condition 2019-08-01 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.