ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*868A>G

gnomAD frequency: 0.00083  dbSNP: rs571576339
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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 RCV000351727 SCV000414225 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 RCV000320960 SCV000483745 likely benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359249 SCV000483746 likely benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897755 SCV004709604 likely benign FTL-related disorder 2021-06-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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