Submissions for variant NM_004484.4(GPC3):c.172C>T (p.Pro58Ser)

gnomAD frequency: 0.00014  dbSNP: rs147231796

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232134	SCV000288572	benign	Wilms tumor 1	2024-11-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001545830	SCV001765237	likely benign	not provided	2019-03-25	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001545830	SCV002009828	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001545830	SCV001930702	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001545830	SCV001966598	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967643	SCV004782289	likely benign	GPC3-related disorder	2022-04-05	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).