ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.617C>T (p.Ala206Val)

dbSNP: rs2147551760
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
SIB Swiss Institute of Bioinformatics RCV003985024 SCV004801371 likely pathogenic Hernia, anterior diaphragmatic 2024-03-03 criteria provided, single submitter curation This variant is interpreted for Diaphragmatic hernia 5, X-linked. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in gnomAD (PM2). De novo data (PS2). Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001827472 SCV001781209 pathogenic Congenital diaphragmatic hernia 2021-08-11 no assertion criteria provided research

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.