ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1636+460_2672del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000408768 SCV000484912 pathogenic Glycogen storage disease, type II no assertion criteria provided clinical testing

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