ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2331+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461620 SCV004197902 pathogenic Glycogen storage disease, type II 2022-08-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003461620 SCV005653246 pathogenic Glycogen storage disease, type II 2024-01-12 criteria provided, single submitter clinical testing

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