ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*450G>A

gnomAD frequency: 0.00414  dbSNP: rs3745693
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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 RCV000344476 SCV000414231 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 RCV000394131 SCV000483755 likely benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278136 SCV000483756 likely benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV002051841 SCV002319171 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing

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