ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.645+2T>C

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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV000002742 SCV001251490 likely pathogenic Marinesco-Sjögren syndrome criteria provided, single submitter research The SIL1 c.645+2T>C (p.?) variant is located in a splice donor site and has been observed in the compound heterozygous state in a family with Marinesco-Sjogren syndrome (PMID: 16282978).
OMIM RCV000002742 SCV000022900 pathogenic Marinesco-Sjögren syndrome 2005-12-01 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.