ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.942-20G>A

gnomAD frequency: 0.00010  dbSNP: rs368204451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430265 SCV000528352 likely benign not specified 2016-06-08 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 RCV002063351 SCV002379419 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-11-28 criteria provided, single submitter clinical testing

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