ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.981T>C (p.Phe327=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003629717 SCV004530323 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-07-23 criteria provided, single submitter clinical testing

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