ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1848C>T (p.Ala616=)

gnomAD frequency: 0.00163  dbSNP: rs145789213
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276081 SCV000414241 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 RCV000316270 SCV000483771 likely benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389587 SCV000483772 likely benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001706535 SCV000532006 likely benign not provided 2021-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000276081 SCV001024785 benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706535 SCV002822586 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing GYS1: BP4, BP7

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