ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1258C>T (p.Leu420=)

gnomAD frequency: 0.00002  dbSNP: rs761332247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247881 SCV002517165 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003517358 SCV004300910 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-12-07 criteria provided, single submitter clinical testing

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