ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.705+11C>T (rs201738304)

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 RCV000151353 SCV000199333 benign not specified 2015-02-26 criteria provided, single submitter clinical testing c.705+11C>T in intron 06 of MYH9: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 0.2% (114/65762) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368 753427).
Illumina Clinical Services Laboratory,Illumina RCV000302357 SCV000438478 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359491 SCV000438479 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 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.