ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter)

dbSNP: rs1601319538
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV001258024 SCV001434838 likely pathogenic MN1 C-terminal truncation (MCTT) syndrome no assertion criteria provided research
OMIM RCV001003396 SCV001161683 pathogenic CEBALID syndrome 2020-02-14 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.