ClinVar Miner

Submissions for variant NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) (rs748106387)

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
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414912 SCV000493053 pathogenic Atrioventricular septal defect; Short stature; Focal segmental glomerulosclerosis; Microcephaly; Small for gestational age; Disproportionate short-trunk short stature; Decreased body weight; Congenital microcephaly; Steroid-resistant nephrotic syndrome 2014-03-04 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196355 SCV001366956 pathogenic Schimke immuno-osseous dysplasia 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.

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.