ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.367A>G (p.Lys123Glu)

gnomAD frequency: 0.00002  dbSNP: rs755733724
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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 RCV000468256 SCV000548707 likely benign Wilms tumor 1 2023-11-02 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153624 SCV003843531 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022704 SCV004877234 likely benign Inborn genetic diseases 2023-12-14 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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