ClinVar Miner

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

gnomAD frequency: 0.07013  dbSNP: rs696217
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Total submissions: 5
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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
Breakthrough Genomics, Breakthrough Genomics RCV001618208 SCV005239228 benign not provided criteria provided, single submitter not provided
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

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