ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1293G>A (p.Ser431=)

gnomAD frequency: 0.00061  dbSNP: rs150475700
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000549121 SCV000654236 likely benign Nemaline myopathy 8 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000616167 SCV000722019 likely benign not specified 2017-08-17 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.
CeGaT Center for Human Genetics Tuebingen RCV003431106 SCV004154289 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing KLHL40: BP4, BP7

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.