ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.891C>T (p.His297=)

gnomAD frequency: 0.00070  dbSNP: rs146380871
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
GeneDx RCV001718977 SCV000723722 likely benign not provided 2020-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001718977 SCV002406518 benign not provided 2023-11-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917933 SCV004739423 likely benign LAMB1-related disorder 2020-01-17 no assertion criteria provided 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.