Submissions for variant NM_000152.5(GAA):c.912C>T (p.Gly304=)

gnomAD frequency: 0.00004  dbSNP: rs368741815

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001241695	SCV001414731	likely benign	Glycogen storage disease, type II	2024-11-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002375278	SCV002685608	likely benign	Cardiovascular phenotype	2022-03-06	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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001796864	SCV002037293	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796864	SCV002038023	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001241695	SCV002091980	uncertain significance	Glycogen storage disease, type II	2020-08-06	no assertion criteria provided	clinical testing