ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) (rs782607566)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222836 SCV000271247 uncertain significance not specified 2018-08-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Illumina Clinical Services Laboratory,Illumina RCV000308007 SCV000374252 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344299 SCV000374253 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394833 SCV000374254 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000675049 SCV000800490 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-01-26 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.