ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.920A>G (p.Tyr307Cys)

gnomAD frequency: 0.00001  dbSNP: rs758523839
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
Hadassah Hebrew University Medical Center RCV000677355 SCV000692448 likely pathogenic Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency no assertion criteria provided 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.