ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*824del

gnomAD frequency: 0.00011  dbSNP: rs886054565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000293435 SCV000414227 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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