ClinVar Miner

Submissions for variant NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) (rs76308115)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434464 SCV000514083 likely benign not specified 2016-07-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000005604 SCV000746542 pathogenic Pigmented nodular adrenocortical disease, primary, 2 2017-12-03 criteria provided, single submitter clinical testing
OMIM RCV000005604 SCV000025786 pathogenic Pigmented nodular adrenocortical disease, primary, 2 2006-07-01 no assertion criteria provided literature only

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