Submissions for variant NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile)

gnomAD frequency: 0.00010  dbSNP: rs139206747

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233542	SCV000288564	benign	Wilms tumor 1	2023-12-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002503909	SCV002807258	likely benign	Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1	2021-09-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003278710	SCV003962719	likely benign	Inborn genetic diseases	2023-04-19	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.
CeGaT Center for Human Genetics Tuebingen	RCV003437023	SCV004165652	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	GPC3: BS2
PreventionGenetics, part of Exact Sciences	RCV003929970	SCV004754000	likely benign	GPC3-related disorder	2020-12-01	criteria provided, single submitter	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).