ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.892G>T (p.Glu298Ter)

dbSNP: rs2124479949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387823 SCV001588542 pathogenic Wilms tumor 1 2021-08-26 criteria provided, single submitter clinical testing
GeneDx RCV004720894 SCV005327994 pathogenic not provided 2023-06-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31304847)

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