ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1068C>T (p.Asn356=)

gnomAD frequency: 0.00014  dbSNP: rs746981890
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902916 SCV001047358 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992421 SCV004811061 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing GYS1: BP4, BP7

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