ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1512C>T (p.Val504=)

gnomAD frequency: 0.00018  dbSNP: rs201028159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440449 SCV001643358 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-06-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001440449 SCV003799328 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920947 SCV004733057 likely benign GYS1-related disorder 2024-01-23 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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