ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.451A>G (p.Met151Val)

gnomAD frequency: 0.00416  dbSNP: rs35146555
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000888780 SCV001032433 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000888780 SCV001862879 benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495378 SCV002798645 likely benign Microcephaly 4, primary, autosomal recessive 2022-04-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000888780 SCV001800237 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726364 SCV001967557 benign not specified no assertion criteria provided clinical testing

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.