ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.73G>A (p.Asp25Asn)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003715090 SCV004480296 likely benign not provided 2023-03-20 criteria provided, single submitter clinical testing
Molecular Medicine Center, Medical University of Sofia RCV005101425 SCV005849012 likely pathogenic Cataract 35 2025-02-07 criteria provided, single submitter research This variant was found to co-segregate with nuclear cataracts in affected mother and son. Variant is classified as likely pathogenic according to the ACMG criteria: PM2, PP2, PP3, 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.