ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.986A>G (p.Asp329Gly)

dbSNP: rs1199305584
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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 RCV000550824 SCV000657591 likely benign Wilms tumor 1 2022-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001755911 SCV001996878 uncertain significance not provided 2019-11-23 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 a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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