ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2189+5_2189+8del

dbSNP: rs2039293139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV001261938 SCV001438024 uncertain significance Glycogen storage disease, type II 2020-10-15 criteria provided, single submitter clinical testing

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