ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.608G>A (p.Arg203His)

gnomAD frequency: 0.00003  dbSNP: rs375160737
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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 RCV000560504 SCV000657580 likely benign Wilms tumor 1 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526739 SCV003744257 likely benign Inborn genetic diseases 2022-09-06 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.
PreventionGenetics, part of Exact Sciences RCV004754474 SCV005347396 likely benign GPC3-related disorder 2024-06-04 no assertion criteria provided 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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