ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.162_163del (p.Asp56fs) (rs587777375)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000116203 SCV000923498 likely pathogenic Glycogen storage disease 0, muscle 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000116203 SCV000150112 pathogenic Glycogen storage disease 0, muscle 2009-12-01 no assertion criteria provided literature only

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