ClinVar Miner

Submissions for variant NM_173560.4(RFX6):c.1542T>C (p.Asn514=)

gnomAD frequency: 0.23461  dbSNP: rs7770158
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 RCV001520536 SCV001729658 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520536 SCV001897392 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118180 SCV000152536 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.