Submissions for variant NM_000169.3(GLA):c.1207T>C (p.Leu403=)

gnomAD frequency: 0.00001  dbSNP: rs869312239

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000941224	SCV001087106	likely benign	Fabry disease	2023-11-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000941224	SCV001358744	likely benign	Fabry disease	2020-01-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798693	SCV002042023	likely benign	Cardiomyopathy	2019-09-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345745	SCV002652491	likely benign	Cardiovascular phenotype	2021-05-15	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	RCV003977576	SCV004788482	likely benign	GLA-related disorder	2022-11-04	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).
All of Us Research Program, National Institutes of Health	RCV000941224	SCV004821927	likely benign	Fabry disease	2023-06-28	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000941224	SCV001463027	likely benign	Fabry disease	2020-04-11	no assertion criteria provided	clinical testing