ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1724T>G (p.Phe575Cys)

dbSNP: rs981077333
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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 RCV000694217 SCV000822651 likely benign Wilms tumor 1 2023-08-05 criteria provided, single submitter clinical testing
GeneDx RCV001756195 SCV001995115 uncertain significance not provided 2019-11-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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