ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2040+69A>G

gnomAD frequency: 0.06120  dbSNP: rs2304834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667068 SCV000791461 benign Glycogen storage disease, type II 2017-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000667068 SCV001738046 benign Glycogen storage disease, type II 2021-06-10 criteria provided, single submitter clinical testing

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