ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) (rs113993984)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics RCV000020497 SCV001482504 uncertain significance Glycogen storage disease, type VI 2020-08-27 criteria provided, single submitter clinical testing disease causing
GeneReviews RCV000020497 SCV000040947 pathologic Glycogen storage disease, type VI 2011-05-17 no assertion criteria provided curation Converted during submission to Pathogenic.

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