Submissions for variant NM_000169.3(GLA):c.639+18G>A

gnomAD frequency: 0.00087  dbSNP: rs189319122

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001713679	SCV001942746	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002073263	SCV002406589	benign	Fabry disease	2025-01-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002073263	SCV002802692	benign	Fabry disease	2021-11-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001713679	SCV003800131	benign	not provided	2022-09-20	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699606	SCV001918119	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001713679	SCV001955279	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003931282	SCV004738629	likely benign	GLA-related disorder	2021-12-10	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).