ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=)

gnomAD frequency: 0.00137  dbSNP: rs188634763
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219826 SCV000269735 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala1229Ala in exon 16 of PRDM16: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.6% (22/3884) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs188634763).
GeneDx RCV001722152 SCV000533646 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing
Invitae RCV000533903 SCV000654398 benign Left ventricular noncompaction 8 2023-12-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001722152 SCV004563376 benign not provided 2023-11-29 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.