ClinVar Miner

Submissions for variant NM_004484.3(GPC3):c.660C>T (p.Ser220=) (rs138450923)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084445 SCV000288577 benign Wilms tumor 1 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488175 SCV000575662 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000611339 SCV000717378 likely benign not specified 2017-03-22 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.
Ambry Genetics RCV000718197 SCV000849059 likely benign History of neurodevelopmental disorder 2017-02-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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