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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000514472 SCV000113013 uncertain significance not provided 2013-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000514472 SCV000526734 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Invitae RCV001079309 SCV000559611 benign Wilms tumor 1 2020-11-25 criteria provided, single submitter clinical testing
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
Ambry Genetics RCV000716415 SCV000847255 likely benign History of neurodevelopmental disorder 2018-12-07 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence;Insufficient or conflicting evidence;Other strong data;Subpopulation frequency in support of benign classification
ITMI RCV000121183 SCV000085351 not provided not specified 2013-09-19 no assertion provided reference population

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