ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp)

gnomAD frequency: 0.00089  dbSNP: rs80248061
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203210 SCV000257791 likely benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871312 SCV001012943 benign Townes syndrome 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001675668 SCV001894981 benign not provided 2019-03-29 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000203210 SCV001984254 benign not specified 2020-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675668 SCV005216430 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.