ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4127+8C>T (rs2470137)

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515063 SCV000609751 likely benign not provided 2017-04-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000603188 SCV000711719 benign not specified 2016-11-19 criteria provided, single submitter clinical testing c.4127+8C>T in intron 20 of STRC: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and it has been identified in 1.2% (117/9752) of African chromosomes by the Exome A ggregation Consortium (ExAC,; dbSNP rs2470137).

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.