Submissions for variant NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)

gnomAD frequency: 0.00086  dbSNP: rs141563188

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880715	SCV001023834	benign	not provided	2023-08-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000880715	SCV001475889	uncertain significance	not provided	2020-02-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000880715	SCV001820496	likely benign	not provided	2021-03-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000880715	SCV002047819	likely benign	not provided	2021-03-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002536823	SCV003659259	likely benign	Inborn genetic diseases	2022-04-22	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	RCV004735858	SCV005351609	likely benign	HSPG2-related disorder	2024-05-17	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).