Submissions for variant NM_002103.5(GYS1):c.1926G>A (p.Val642=)

gnomAD frequency: 0.00912  dbSNP: rs5451

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000373018	SCV000414240	likely benign	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374442	SCV000483769	likely benign	Hereditary hyperferritinemia with congenital cataracts	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000279916	SCV000483770	likely benign	Neuroferritinopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000421901	SCV000520674	benign	not specified	2017-12-26	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	RCV000373018	SCV001030696	benign	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	2024-01-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703797	SCV005209795	likely benign	not provided		criteria provided, single submitter	not provided