ClinVar Miner

Submissions for variant NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) (rs141100113)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716415 SCV000847255 likely benign History of neurodevelopmental disorder 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence,Subpopulation frequency in support of benign classification,Other strong data
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514472 SCV000609555 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514472 SCV000113013 uncertain significance not provided 2013-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000121183 SCV000526734 likely benign not specified 2016-04-20 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.
ITMI RCV000121183 SCV000085351 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000460617 SCV000559611 benign Wilms tumor 1 2017-12-07 criteria provided, single submitter clinical testing

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