ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1076-2A>G

dbSNP: rs1057516290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409982 SCV000485420 likely pathogenic Glycogen storage disease, type II 2015-12-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137981 SCV003822607 pathogenic not provided 2021-12-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409982 SCV004197800 pathogenic Glycogen storage disease, type II 2023-07-08 criteria provided, single submitter clinical testing

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