ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2124G>A (p.Leu708=)

gnomAD frequency: 0.00002  dbSNP: rs1309209851
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002122436 SCV002393669 likely benign Congenital muscular hypertrophy-cerebral syndrome 2023-06-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507988 SCV002804155 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2022-04-08 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.