ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.408T>C (p.Asn136=)

gnomAD frequency: 0.01190  dbSNP: rs76870996
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000864319 SCV001005108 benign Duane-radial ray syndrome 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001613110 SCV001836368 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613110 SCV005314585 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.