ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met)

gnomAD frequency: 0.00011  dbSNP: rs138655327
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000526833 SCV000654366 likely benign Left ventricular noncompaction 8 2024-10-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600375 SCV000711468 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr570Met in exon 9 of PRDM16: This variant is not expected to have clinical sig nificance because it has been identified in 4.5% (8/178) of Japanese chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs138655327).
GeneDx RCV001722514 SCV000732275 likely benign not provided 2021-03-04 criteria provided, single submitter 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.