ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) (rs546494522)

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 RCV000155907 SCV000205618 likely benign not specified 2013-08-15 criteria provided, single submitter clinical testing Asn5182Asn in Exon 72 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and it is not locate d within the splice consensus sequence.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155907 SCV000337204 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing
Invitae RCV000933774 SCV001079483 benign not provided 2020-11-19 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.