ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7301-6C>T (rs375499259)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724816 SCV000891880 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724816 SCV000229988 uncertain significance not provided 2015-05-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041906 SCV000065602 likely benign not specified 2015-12-05 criteria provided, single submitter clinical testing 7301-6C>T in intron 38 of USH2A: This variant is not expected to have clinical significance because it is not predicted to impact the splice consensus sequence . This variant has been identified in 53/66482 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375499259 ).

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.