ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1810-19C>A

gnomAD frequency: 0.00016  dbSNP: rs367581750
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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 RCV002071376 SCV002328861 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2024-01-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704675 SCV005209796 likely benign not provided criteria provided, single submitter not provided

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