ClinVar Miner

Submissions for variant NM_002666.5(PLIN1):c.1113T>C (p.Pro371=)

gnomAD frequency: 0.37380  dbSNP: rs2304795
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001689655 SCV001915430 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789170 SCV002031481 benign PLIN1-related familial partial lipodystrophy 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689655 SCV005294947 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117991 SCV000152308 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.