ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.492+8C>A

gnomAD frequency: 0.00002  dbSNP: rs751502676
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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 RCV002065533 SCV002477566 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968072 SCV004781074 likely benign GYS1-related disorder 2020-07-16 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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