ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4623G>A (p.Thr1541=)

gnomAD frequency: 0.00155  dbSNP: rs139974816
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
GeneDx RCV000972295 SCV000723139 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972295 SCV001119999 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279417 SCV002564918 likely benign Osteogenesis imperfecta 2021-02-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000972295 SCV004563581 likely benign not provided 2023-11-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972295 SCV005217297 likely benign not provided criteria provided, single submitter not provided

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.