ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.363T>A (p.His121Gln)

gnomAD frequency: 0.00001  dbSNP: rs754433681
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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 RCV000694123 SCV000822553 likely benign Wilms tumor 1 2023-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025183 SCV004877233 likely benign Inborn genetic diseases 2023-09-23 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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