ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*841A>G

gnomAD frequency: 0.01139  dbSNP: rs75797604
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387720 SCV000414226 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266955 SCV000483747 likely benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324564 SCV000483748 likely benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001778920 SCV002015692 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing

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