ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1911+7A>G

gnomAD frequency: 0.00001  dbSNP: rs2075687773
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
Baylor Genetics RCV001330229 SCV001521851 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001330229 SCV002988281 likely benign Congenital muscular hypertrophy-cerebral syndrome 2022-09-28 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.