ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1713G>A (p.Ser571=)

gnomAD frequency: 0.00024  dbSNP: rs149209315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653761 SCV000775651 likely benign Wilms tumor 1 2023-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907919 SCV004721152 likely benign GPC3-related disorder 2019-08-09 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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