ClinVar Miner

Submissions for variant NM_000260.3(MYO7A):c.2489G>A (p.Arg830His) (rs371029653)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675124 SCV000800693 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-04-06 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171199 SCV000221396 likely pathogenic not provided no assertion criteria provided research
Fulgent Genetics RCV000765014 SCV000896198 uncertain significance Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365276 SCV000374296 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395526 SCV000374297 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307060 SCV000374298 uncertain significance 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.