ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) (rs111033476)

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 RCV000036207 SCV000059859 benign not specified 2012-04-27 criteria provided, single submitter clinical testing Leu1945Leu in exon 42 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.9% (30/3396) of Africa n American chromosomes from a broad population by the NHLBI Exome sequencing pro ject (http://evs.gs.washington.edu/EVS/; dbSNP rs77469944).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036207 SCV000230564 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278156 SCV000374475 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335511 SCV000374476 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406804 SCV000374477 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.