ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1926G>A (p.Val642=) (rs5451)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000373018 SCV000414240 likely benign Glycogen storage disease 0, muscle 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374442 SCV000483769 likely benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279916 SCV000483770 likely benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000421901 SCV000520674 benign not specified 2017-12-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000373018 SCV001030696 benign Glycogen storage disease 0, muscle 2020-11-18 criteria provided, single submitter clinical testing

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