ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.1168G>T (p.Glu390Ter)

dbSNP: rs1557518298
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000680224 SCV003924289 pathogenic Bone marrow failure syndrome 4 2023-05-08 criteria provided, single submitter research
OMIM RCV000680224 SCV000807677 pathogenic Bone marrow failure syndrome 4 2018-09-13 no assertion criteria provided literature only

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.