ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*725C>T (rs1042265)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000348400 SCV000414228 likely benign Glycogen storage disease 0, muscle 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381402 SCV000483749 benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289397 SCV000483750 benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing

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