ClinVar Miner

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

dbSNP: rs4889821
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Total submissions: 4
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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
Breakthrough Genomics, Breakthrough Genomics RCV001712946 SCV005214238 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001527107 SCV002094476 benign Glycogen storage disease, type II 2019-09-09 no assertion criteria provided clinical testing

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