ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.3591C>T (p.Ala1197=) (rs146216425)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081385 SCV000113316 benign not specified 2014-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392194 SCV000482659 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000639419 SCV000760994 benign Congenital muscular hypertrophy-cerebral syndrome 2017-09-22 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.