ClinVar Miner

Submissions for variant NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) (rs386352352)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000119834 SCV000154760 pathogenic Pigmented nodular adrenocortical disease, primary, 4 2014-06-01 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000122662 SCV000155169 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Institute of Human Genetics,Klinikum rechts der Isar RCV000119834 SCV000196706 pathogenic Pigmented nodular adrenocortical disease, primary, 4 2014-03-13 no assertion criteria provided research

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