ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)

gnomAD frequency: 0.00002  dbSNP: rs781991944
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
Invitae RCV001458030 SCV001661845 likely benign Congenital muscular hypertrophy-cerebral syndrome 2023-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488262 SCV002803296 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2021-10-05 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.