Submissions for variant NM_004484.4(GPC3):c.338-5del

dbSNP: rs370737647

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202708	SCV000257817	benign	not specified	2015-03-25	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000202708	SCV000539249	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Present in 32% of Europeans in ExAC, but fails inbreeding coefficient filter. Not predicted to impact splicing.
Ambry Genetics	RCV002311313	SCV000846807	benign	Inborn genetic diseases	2017-07-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990947	SCV001000917	benign	Wilms tumor 1	2019-12-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000990947	SCV001142018	benign	Wilms tumor 1	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001572738	SCV001890669	benign	not provided	2019-08-18	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257500	SCV002537455	benign	Hereditary cancer-predisposing syndrome	2019-12-09	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002485334	SCV002797864	likely benign	Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1	2021-08-25	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572738	SCV001797563	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001572738	SCV001808758	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000202708	SCV001969769	benign	not specified		no assertion criteria provided	clinical testing