ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.39G>T (p.Ala13=)

gnomAD frequency: 0.00002  dbSNP: rs1057522079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427147 SCV000526010 likely benign not specified 2016-03-30 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 RCV000456147 SCV000559608 likely benign Wilms tumor 1 2024-01-19 criteria provided, single submitter clinical testing

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