ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1284C>T (p.Leu428=)

dbSNP: rs2124430679
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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 RCV001448785 SCV001651886 likely benign Wilms tumor 1 2023-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438800 SCV004165650 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing GPC3: PM2:Supporting, BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003900543 SCV004710247 likely benign GPC3-related disorder 2022-01-06 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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