ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.693G>A (p.Gln231=)

gnomAD frequency: 0.00002  dbSNP: rs768782219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820289 SCV000960996 benign Wilms tumor 1 2024-04-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816904 SCV002065347 likely benign not specified 2021-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049708 SCV005683299 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2024-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754575 SCV005347862 likely benign GPC3-related disorder 2024-06-03 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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