ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)

gnomAD frequency: 0.00033  dbSNP: rs368682932
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
Eurofins Ntd Llc (ga) RCV000261880 SCV000340854 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000261880 SCV002400883 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000261880 SCV004031980 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477889 SCV000536770 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2015-09-23 no assertion criteria provided research

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.