ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1083A>G (p.Thr361=)

gnomAD frequency: 0.00008  dbSNP: rs149865396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616979 SCV000732412 likely benign not specified 2017-06-12 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 RCV001444838 SCV001647852 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-12-06 criteria provided, single submitter clinical testing

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