ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.351C>T (p.Ser117=) (rs769149281)

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
Ambry Genetics RCV000617342 SCV000738484 likely benign Cardiovascular phenotype 2016-03-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000902405 SCV001046826 likely benign Classic homocystinuria 2019-12-31 criteria provided, single submitter clinical testing

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.