ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*370A>C

gnomAD frequency: 0.00015  dbSNP: rs185366453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394546 SCV000414232 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312141 SCV000483759 likely benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366661 SCV000483760 likely benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing

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