ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1263T>G (p.Leu421=)

gnomAD frequency: 0.00004  dbSNP: rs1474137107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607964 SCV000719819 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000870700 SCV001012231 likely benign Wilms tumor 1 2023-11-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437307 SCV004165651 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing GPC3: BP4, BP7

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