ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.414T>C (p.Thr138=)

gnomAD frequency: 0.00004  dbSNP: rs1048793393
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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 RCV000473486 SCV000559607 likely benign Wilms tumor 1 2023-11-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899979 SCV004708415 likely benign GPC3-related disorder 2022-07-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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