ClinVar Miner

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

gnomAD frequency: 0.00912  dbSNP: rs5451
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Total submissions: 6
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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

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