Submissions for variant NM_021957.4(GYS2):c.942-7del

gnomAD frequency: 0.00001  dbSNP: rs537907545

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000300407	SCV000377441	uncertain significance	Glycogen storage disorder due to hepatic glycogen synthase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000486120	SCV000572462	likely benign	not specified	2018-02-23	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000300407	SCV002344210	benign	Glycogen storage disorder due to hepatic glycogen synthase deficiency	2024-12-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930307	SCV004743241	likely benign	GYS2-related disorder	2019-04-22	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).