ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.1950C>T (p.Gly650=)

gnomAD frequency: 0.00121  dbSNP: rs149008635
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000870610 SCV001012129 benign Duane-radial ray syndrome 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001683350 SCV001903793 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502305 SCV002810731 likely benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001683350 SCV005093319 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SALL4: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004544632 SCV004787814 likely benign SALL4-related disorder 2020-02-17 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.