ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.543G>A (p.Gln181=)

gnomAD frequency: 0.00001  dbSNP: rs1266410074
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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 RCV002094588 SCV002436361 likely benign Wilms tumor 1 2023-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346478 SCV002649069 likely benign Inborn genetic diseases 2018-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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