ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.823+11_823+12del

dbSNP: rs750236338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615126 SCV000716812 likely benign not specified 2017-03-28 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 RCV002529463 SCV003503129 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2024-01-24 criteria provided, single submitter clinical testing

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