ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) (rs372535399)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733015 SCV000861024 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357884 SCV000374402 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267931 SCV000374403 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323066 SCV000374404 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155236 SCV000204922 likely benign not specified 2013-09-18 criteria provided, single submitter clinical testing Pro1617Pro in Exon 35 of MYO7A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, and, although it is located in the penultimate base pair of exon 35, it is not predicted to alter s plicing.

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.