ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.858+17_858+23del (rs1555599723)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591127 SCV000569348 benign not provided 2018-05-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001271973 SCV001471592 benign Glycogen storage disease, type II 2020-06-23 criteria provided, single submitter clinical testing
GeneDx RCV001591127 SCV001826669 likely benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271973 SCV001453598 likely benign Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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