ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.2481del (p.Ile827fs) (rs797045069)

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 RCV000191130 SCV000245539 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2013-07-17 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 21-year-old female with intellectual disbility, autistic features, intractable seizures, wide-based gait, dysmorphisms, 2-3 toe syndactyly, short stature, microcephaly, hyperextensibility, osteopenia
Baylor Genetics RCV000191130 SCV000747080 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-03-08 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.