ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.432C>T (p.Tyr144=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003053073 SCV003447405 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898720 SCV004716664 likely benign GYS1-related disorder 2023-02-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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