ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.489T>C (p.Thr163=) (rs143672551)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567376 SCV000674432 likely benign Hereditary cancer-predisposing syndrome 2017-06-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000601259 SCV000715739 likely benign not specified 2017-02-06 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.
Invitae RCV000456278 SCV000556797 benign Carney complex, type 1 2017-12-22 criteria provided, single submitter clinical testing

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