ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.733C>A (p.His245Asn)

gnomAD frequency: 0.00002  dbSNP: rs199778216
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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 RCV000818304 SCV000958907 likely benign Wilms tumor 1 2024-01-19 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000818304 SCV001368649 uncertain significance Wilms tumor 1 2019-08-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. This variant was detected in hemizygous state.

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