ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.1041T>A (p.Thr347=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513813 SCV001721501 benign Glycogen storage disease XV; Polyglucosan body myopathy 2 2020-09-09 criteria provided, single submitter clinical testing
GeneDx RCV001576603 SCV001803828 uncertain significance not provided 2019-10-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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