ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.167_169del (p.Val56del)

dbSNP: rs2146392922
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto RCV002261475 SCV002540768 likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2022-07-07 no assertion criteria provided research PM2, PM1, PM4, PP1

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.