ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.744C>T (p.Pro248=)

gnomAD frequency: 0.00032  dbSNP: rs141885504
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533449 SCV000654478 likely benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2024-01-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707338 SCV005224701 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.