Submissions for variant NM_000169.3(GLA):c.640-854_640-853del

dbSNP: rs201655854

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035307	SCV000058955	benign	not specified	2010-03-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000035307	SCV000565043	benign	not specified	2016-07-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769538	SCV000900933	benign	Cardiomyopathy	2017-10-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811240	SCV001159604	benign	not provided	2021-01-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001274027	SCV002054330	benign	Fabry disease	2021-07-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274027	SCV001457724	benign	Fabry disease	2020-09-16	no assertion criteria provided	clinical testing