ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.1462A>G (p.Ser488Gly)

gnomAD frequency: 0.98618  dbSNP: rs7333040
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001775522 SCV002014211 benign Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074063 SCV002346418 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002074063 SCV005230861 benign not provided criteria provided, single submitter not provided

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.