ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.616-6G>A

gnomAD frequency: 0.00012  dbSNP: rs587784424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147573 SCV000195022 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872759 SCV001014628 benign Congenital muscular hypertrophy-cerebral syndrome 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001651005 SCV001866224 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492536 SCV002803747 benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2021-08-23 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.