ClinVar Miner

Submissions for variant NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)

gnomAD frequency: 0.00001  dbSNP: rs558493952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mani Lab, Yale Cardiovascular Research Center, Yale University RCV000853072 SCV000916383 pathogenic Coronary artery disorder; Hypertriglyceridemia; Hypertensive disorder; Diabetes 2017-01-01 no assertion criteria provided research
OMIM RCV002508145 SCV000995922 pathogenic Abdominal obesity-metabolic syndrome 4 2019-10-10 no assertion criteria provided literature only

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