ClinVar Miner

Submissions for variant NM_016362.5(GHRL):c.269A>T (p.Gln90Leu)

gnomAD frequency: 0.06619  dbSNP: rs4684677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001723541 SCV001950732 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23251435, 12050239, 25540946, 23084284)
Breakthrough Genomics, Breakthrough Genomics RCV001723541 SCV005239225 benign not provided criteria provided, single submitter not provided
OMIM RCV000023422 SCV000044713 risk factor Obesity 2002-06-01 no assertion criteria provided literature only

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