ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.2177+2T>C

dbSNP: rs1368182301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199242 SCV001370292 likely pathogenic Glycogen storage disease, type VI 2019-06-24 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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