ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2647-71G>C

dbSNP: rs4889821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527107 SCV001737959 likely benign Glycogen storage disease, type II 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001712946 SCV001939522 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001527107 SCV002094476 benign Glycogen storage disease, type II 2019-09-09 no assertion criteria provided clinical testing

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