ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp)

dbSNP: rs1584251938
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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508782 SCV002818193 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
GeneDx RCV002508782 SCV004170912 pathogenic not provided 2023-04-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35046037, 33423168, 27182967, 28346228, 29266745)
OMIM RCV000239516 SCV000297952 pathogenic MIRAGE syndrome 2020-12-10 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.