ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7038C>T (p.His2346=) (rs145718407)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213559 SCV000271176 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing His2346His in Exon 37 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs145718407).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725927 SCV000340579 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing
Invitae RCV000725927 SCV001038184 likely benign not provided 2019-03-05 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.