ClinVar Miner

Submissions for variant NM_016362.5(GHRL):c.214C>A (p.Leu72Met)

gnomAD frequency: 0.07013  dbSNP: rs696217
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 RCV001618208 SCV001846653 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28481975, 25257375, 23321590, 31440212, 30487812, 24132517, 25540946, 24341728, 11502844, 12181387, 22876551, 16793966, 21195705, 18848536)
Fulgent Genetics, Fulgent Genetics RCV002482831 SCV002802559 likely benign Obesity 2022-04-19 criteria provided, single submitter clinical testing
OMIM RCV000005365 SCV000025544 pathogenic Obesity, age at onset of 2005-12-01 no assertion criteria provided literature only
OMIM RCV000005366 SCV000025545 risk factor Metabolic syndrome, susceptibility to 2005-12-01 no assertion criteria provided literature only

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.