ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.635G>A (p.Arg212His) (rs28934610)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036232 SCV000059884 pathogenic Rare genetic deafness 2011-05-17 criteria provided, single submitter clinical testing The Arg212His variant has been reported in 7 probands with Usher syndrome (Westo n 1996, Pennings 2004). Five of these probands were homozygous or compound heter ozygous. This variant has been shown to segregate in affected siblings in 2 of t hese families. In summary, this data meets our criteria to classify this variant as pathogenic.
Counsyl RCV000665766 SCV000789937 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-03-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073914 SCV001239479 pathogenic Retinal dystrophy 2018-06-18 criteria provided, single submitter clinical testing
OMIM RCV000012624 SCV000032859 pathogenic Usher syndrome, type 1B 1996-11-01 no assertion criteria provided literature only

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.