ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.676A>G (p.Thr226Ala)

gnomAD frequency: 0.00014  dbSNP: rs145141525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695533 SCV000824040 benign Wilms tumor 1 2024-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001585634 SCV001811570 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754534 SCV005345815 likely benign GPC3-related disorder 2024-04-17 no assertion criteria provided 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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