ClinVar Miner

Submissions for variant NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg)

dbSNP: rs1554476282
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
Ambry Genetics RCV000622406 SCV000742565 likely pathogenic Inborn genetic diseases 2017-05-25 criteria provided, single submitter clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV003446272 SCV004174104 likely pathogenic Surfactant metabolism dysfunction, pulmonary, 2 no assertion criteria provided clinical testing

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.