ClinVar Miner

Submissions for variant NM_002103.4(GYS1):c.-253delG

dbSNP: rs370753423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346139 SCV000483777 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001584103 SCV001813991 likely benign not provided 2018-08-30 criteria provided, single submitter clinical testing

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