ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.1570A>T (p.Met524Leu)

gnomAD frequency: 0.00850  dbSNP: rs149528827
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
Invitae RCV000881695 SCV001024886 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284879 SCV001470973 benign Charcot-Marie-Tooth disease type 4B3 2020-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000881695 SCV001805628 likely benign not provided 2023-02-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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.