ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*908G>A

gnomAD frequency: 0.00664  dbSNP: rs117997270
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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 RCV000278073 SCV000414224 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 RCV000355645 SCV000483743 likely benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263403 SCV000483744 likely benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001785575 SCV002027770 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing

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