ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.826G>T (p.Gly276Cys)

dbSNP: rs141100113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653753 SCV000775643 likely benign Wilms tumor 1 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV003314634 SCV004014325 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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