ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1211-1188G>A (rs199972595)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152553 SCV000201766 likely benign not specified 2013-08-19 criteria provided, single submitter clinical testing 1211-4G>A in Exon 15B of USH1C: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence, is n ot predicted to impact splicing, and has been identified in 0.8% (1/122) African American chromosomes by the 1000 Genomes Project (dbSNP rs199972595).
Invitae RCV001392833 SCV001594482 likely benign not provided 2020-10-09 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.